#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
SMARCC2	6601	broad.mit.edu	37	12	56575853	56575853	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575853A>G	ENST00000267064.4	-	8	729	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000550164.1_Missense_Mutation_p.W215R|SMARCC2_ENST00000394023.3_Missense_Mutation_p.W215R|SMARCC2_ENST00000550859.1_5'UTR	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	215					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTGGGATCCACGTGTCGTAA	0.443																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(643-645)Tgg>Cgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							79.0	72.0	74.0					12																	56575853		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575853A>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.643T>C	12.37:g.56575853A>G	ENSP00000267064:p.Trp215Arg					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.W215R	p.W215R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	748	-			215					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.643T>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308301	0.81247	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.66638	-0.18;-0.13;-0.22	5.08	5.08	0.68730	BRCT (1);Chromo domain/shadow (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.85197	2.74	0.52501	D	0.999952	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999	D;D;D;D;D	0.83275	0.99;0.996;0.99;0.99;0.996	D	0.85923	0.1447	10	0.87932	D	0	-5.6109	14.2688	0.66138	1.0:0.0:0.0:0.0	.	104;215;220;215;215	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	R	215	ENSP00000449396:W215R;ENSP00000302919:W215R;ENSP00000267064:W215R	ENSP00000267064:W215R	W	-	1	0	SMARCC2	54862120	1.000000	0.71417	0.945000	0.38365	0.897000	0.52465	8.801000	0.91905	2.276000	0.75962	0.454000	0.30748	TGG		0.443	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	31	0	0	0	1	0	7	31				
KIAA1429	25962	broad.mit.edu	37	8	95502188	95502188	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:95502188A>G	ENST00000297591.5	-	23	5338	c.5263T>C	c.(5263-5265)Tta>Cta	p.L1755L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1755					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGGGTCGTAATGGTGGAAGA	0.418																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5263-5265)Tta>Cta		KIAA1429							119.0	111.0	114.0					8																	95502188		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95502188A>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5263T>C	8.37:g.95502188A>G						KIAA1429_ENST00000437199.1_3'UTR	p.L1755L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		23	5338	-	Breast(36;3.29e-05)		1755					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.5263T>C	CCDS34923.1																																																																																				0.418	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		13	36	0	0	0	1	0	13	36				
ZNF516	9658	broad.mit.edu	37	18	74091250	74091250	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:74091250G>A	ENST00000443185.2	-	4	3137	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	940					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(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGCTGCGCGCCAGCCCGGG	0.701																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2818-2820)ggC>ggT		zinc finger protein 516							16.0	21.0	19.0					18																	74091250		1767	3879	5646	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091250G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2820C>T	18.37:g.74091250G>A						ZNF516_ENST00000524431.2_5'UTR	p.G940G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3137	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	940						Silent	SNP	ENST00000443185.2	37	c.2820C>T																																																																																					0.701	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		7	33	0	0	0	1	0	7	33				
HOXD10	3236	broad.mit.edu	37	2	176981919	176981919	+	Missense_Mutation	SNP	C	C	T	rs558548040		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:176981919C>T	ENST00000249501.4	+	1	613	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	120					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTCTGATAAGCGCAACAAACT	0.493																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(358-360)Cgc>Tgc		homeobox D10							154.0	164.0	161.0					2																	176981919		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981919C>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.358C>T	2.37:g.176981919C>T	ENSP00000249501:p.Arg120Cys					HOXD10_ENST00000490088.2_Intron	p.R120C	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	613	+			120					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.358C>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244544	0.22796	.	.	ENSG00000128710	ENST00000249501	T	0.36340	1.26	5.99	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.43701	1.375	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.05386	-1.0888	10	0.48119	T	0.1	.	14.0125	0.64505	0.319:0.681:0.0:0.0	.	120	P28358	HXD10_HUMAN	C	120	ENSP00000249501:R120C	ENSP00000249501:R120C	R	+	1	0	HOXD10	176690165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.241000	0.65384	2.847000	0.97988	0.655000	0.94253	CGC		0.493	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			24	90	0	0	0	1	0	24	90				
F2R	2149	broad.mit.edu	37	5	76028839	76028839	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:76028839C>T	ENST00000319211.4	+	2	1054	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	263					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|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 cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAACCCTGCTCGAAGGCTACT	0.507																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(787-789)ctC>ctT		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						127.0	130.0	129.0					5																	76028839		2203	4300	6503	SO:0001819	synonymous_variant	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028839C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.789C>T	5.37:g.76028839C>T							p.L263L	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1054	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	263					Q53XV0|Q96RF7|Q9BUN4	Silent	SNP	ENST00000319211.4	37	c.789C>T	CCDS4032.1																																																																																				0.507	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			4	58	0	0	0	1	0	4	58				
ATP2B3	492	broad.mit.edu	37	X	152807165	152807165	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152807165G>A	ENST00000349466.2	+	4	771	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149K|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E149K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	149					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)			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)					AGATGAGGGCGAGGCCGAAGC	0.602																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(445-447)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 3							100.0	80.0	87.0					X																	152807165		2203	4300	6503	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:152807165G>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.445G>A	X.37:g.152807165G>A	ENSP00000343886:p.Glu149Lys					ATP2B3_ENST00000349466.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149K	p.E149K			Q16720	AT2B3_HUMAN			4	771	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		149					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.445G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332857	0.81801	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.68	5.68	0.88126	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	M	0.92268	3.29	0.54753	D	0.999989	P;P	0.41475	0.637;0.751	B;B	0.37422	0.126;0.249	D	0.93161	0.6558	10	0.62326	D	0.03	-23.8923	17.3953	0.87443	0.0:0.0:1.0:0.0	.	149;149	Q16720;Q16720-2	AT2B3_HUMAN;.	K	149	ENSP00000359205:E149K;ENSP00000343886:E149K;ENSP00000377425:E149K;ENSP00000352062:E149K;ENSP00000263519:E149K;ENSP00000359200:E149K	ENSP00000263519:E149K	E	+	1	0	ATP2B3	152460359	1.000000	0.71417	0.882000	0.34594	0.027000	0.11550	9.800000	0.99124	2.377000	0.81083	0.600000	0.82982	GAG		0.602	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		15	26	0	0	0	1	0	15	26				
IL27RA	9466	broad.mit.edu	37	19	14157260	14157260	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:14157260G>A	ENST00000263379.2	+	8	1096	c.971G>A	c.(970-972)cGt>cAt	p.R324H		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	324	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCTGCCCCCCGTAGCGTGGCA	0.637																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(970-972)cGt>cAt		interleukin 27 receptor, alpha							72.0	76.0	74.0					19																	14157260		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157260G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.971G>A	19.37:g.14157260G>A	ENSP00000263379:p.Arg324His						p.R324H	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			8	1096	+			324			Fibronectin type-III 2.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.971G>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	4.600	0.111476	0.08831	.	.	ENSG00000104998	ENST00000263379	T	0.58652	0.32	4.22	-8.43	0.00953	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.170620	0.02086	N	0.052783	T	0.27205	0.0667	N	0.00605	-1.335	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47724	-0.9095	10	0.13470	T	0.59	-1.6855	19.931	0.97118	0.1756:0.0:0.8244:0.0	.	324	Q6UWB1	I27RA_HUMAN	H	324	ENSP00000263379:R324H	ENSP00000263379:R324H	R	+	2	0	IL27RA	14018260	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.973000	0.03798	-2.505000	0.00508	-1.296000	0.01341	CGT		0.637	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		6	106	0	0	0	1	0	6	106				
PDGFRB	5159	broad.mit.edu	37	5	149514471	149514471	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149514471A>G	ENST00000261799.4	-	4	942	c.473T>C	c.(472-474)gTg>gCg	p.V158A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	158	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|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 phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAGTGTCACCACCAGCTG	0.498			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(472-474)gTg>gCg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						147.0	144.0	145.0					5																	149514471		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149514471A>G	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.473T>C	5.37:g.149514471A>G	ENSP00000261799:p.Val158Ala						p.V158A	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	942	-		all_hematologic(541;0.224)	158			Ig-like C2-type 2.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.473T>C	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936551	0.92458	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.46819	0.86;0.86;0.86	5.85	5.85	0.93711	Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000101	T	0.72771	0.3502	M	0.85630	2.765	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77768	-0.2464	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	158;158	B5A957;P09619	.;PGFRB_HUMAN	A	158;94;158	ENSP00000261799:V158A;ENSP00000429218:V94A;ENSP00000430715:V158A	ENSP00000261799:V158A	V	-	2	0	PDGFRB	149494664	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.036000	0.88901	2.233000	0.73108	0.533000	0.62120	GTG		0.498	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		15	70	0	0	0	1	0	15	70				
ESPL1	9700	broad.mit.edu	37	12	53663786	53663786	+	Missense_Mutation	SNP	C	C	T	rs567786268		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53663786C>T	ENST00000257934.4	+	3	1151	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R354C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	354					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						CACCAAGAGGCGCTATAGACT	0.537																																					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.(1060-1062)Cgc>Tgc		extra spindle pole bodies homolog 1 (S. cerevisiae)							92.0	96.0	95.0					12																	53663786		2203	4300	6503	SO:0001583	missense	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.chr12:53663786C>T	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.1060C>T	12.37:g.53663786C>T	ENSP00000257934:p.Arg354Cys					ESPL1_ENST00000552462.1_Missense_Mutation_p.R354C	p.R354C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	1151	+			354						Missense_Mutation	SNP	ENST00000257934.4	37	c.1060C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.977897	0.18812	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12147	2.71;2.71	5.41	1.04	0.20106	.	0.842078	0.10905	N	0.621243	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.43956	-0.9359	9	.	.	.	.	6.629	0.22847	0.1949:0.6125:0.0:0.1926	.	354	Q14674	ESPL1_HUMAN	C	354;29;354	ENSP00000257934:R354C;ENSP00000449831:R354C	.	R	+	1	0	ESPL1	51950053	0.000000	0.05858	0.003000	0.11579	0.470000	0.32858	0.063000	0.14410	0.359000	0.24239	0.561000	0.74099	CGC		0.537	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		8	39	0	0	0	1	0	8	39				
CEP135	9662	broad.mit.edu	37	4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A	rs192961697		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:56840987G>A	ENST00000257287.4	+	11	1449	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	442					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15847	0.0		0.0	False		,,,				2504	0.0					ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1324-1326)cGt>cAt		centrosomal protein 135kDa		G	HIS/ARG	0,4406		0,0,2203	87.0	87.0	87.0		1325	5.8	1.0	4		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP135	NM_025009.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	442/1141	56840987	1,13005	2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56840987G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1325G>A	4.37:g.56840987G>A	ENSP00000257287:p.Arg442His						p.R442H	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			11	1449	+	Glioma(25;0.08)|all_neural(26;0.101)		442					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1325G>A	CCDS33986.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.108271	0.94292	0.0	1.16E-4	ENSG00000174799	ENST00000257287	T	0.47177	0.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69870	-0.5028	10	0.49607	T	0.09	.	19.9623	0.97256	0.0:0.0:1.0:0.0	.	442	Q66GS9	CP135_HUMAN	H	442	ENSP00000257287:R442H	ENSP00000257287:R442H	R	+	2	0	CEP135	56535744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	2.713000	0.92767	0.455000	0.32223	CGT		0.373	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		4	38	0	0	0	1	0	4	38				
VPS52	6293	broad.mit.edu	37	6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33236870G>A	ENST00000445902.2	-	6	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCGAAGTCGAATGTTCATG	0.537																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(469-471)Cga>Tga		vacuolar protein sorting 52 homolog (S. cerevisiae)							228.0	217.0	221.0					6																	33236870		1511	2709	4220	SO:0001587	stop_gained	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236870G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.469C>T	6.37:g.33236870G>A	ENSP00000409952:p.Arg157*					VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	p.R157*	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			6	687	-			157					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	c.469C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	38	6.959857	0.97964	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.056566	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-11.008	11.1191	0.48277	0.0:0.0:0.8157:0.1843	.	.	.	.	X	157;135;32	.	ENSP00000414785:R135X	R	-	1	2	VPS52	33344848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.760000	0.38430	2.776000	0.95493	0.573000	0.79308	CGA		0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		24	107	0	0	0	1	0	24	107				
SHCBP1	79801	broad.mit.edu	37	16	46638334	46638334	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:46638334A>G	ENST00000303383.3	-	6	995	c.729T>C	c.(727-729)ctT>ctC	p.L243L		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	243					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTCAACAATAAGTCCTGATG	0.373																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(727-729)ctT>ctC		SHC SH2-domain binding protein 1							94.0	96.0	96.0					16																	46638334		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46638334A>G	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.729T>C	16.37:g.46638334A>G							p.L243L	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			6	995	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	243					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.729T>C	CCDS10720.1																																																																																				0.373	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		16	69	0	0	0	1	0	16	69				
CCDC81	60494	broad.mit.edu	37	11	86106421	86106421	+	Silent	SNP	A	A	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:86106421A>C	ENST00000445632.2	+	5	873	c.601A>C	c.(601-603)Agg>Cgg	p.R201R	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000528728.1_5'UTR|CCDC81_ENST00000354755.1_Silent_p.R111R	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	201										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGGCCTTGAGGAAGTGGCC	0.547																																						ENST00000445632.2																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(601-603)Agg>Cgg		coiled-coil domain containing 81							244.0	193.0	210.0					11																	86106421		2202	4299	6501	SO:0001819	synonymous_variant	60494							g.chr11:86106421A>C	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.601A>C	11.37:g.86106421A>C						CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Silent_p.R111R|CCDC81_ENST00000528728.1_5'UTR	p.R201R	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN			5	873	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	201					A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	37	c.601A>C	CCDS53691.1																																																																																				0.547	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		7	40	0	0	0	1	0	7	40				
CCKAR	886	broad.mit.edu	37	4	26483360	26483360	+	Missense_Mutation	SNP	G	G	A	rs200308893		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:26483360G>A	ENST00000295589.3	-	5	1381	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	396					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTCTCCCCTCGCCCCTGGGGG	0.627																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1186-1188)gCg>gTg		cholecystokinin A receptor	Ceruletide(DB00403)						69.0	73.0	72.0					4																	26483360		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483360G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1187C>T	4.37:g.26483360G>A	ENSP00000295589:p.Ala396Val						p.A396V	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1381	-		Breast(46;0.0503)	396					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.1187C>T	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900431	0.17686	.	.	ENSG00000163394	ENST00000295589	T	0.37235	1.21	5.26	-3.47	0.04753	.	2.032360	0.01754	N	0.030091	T	0.17534	0.0421	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15037	-1.0451	10	0.18710	T	0.47	.	7.6926	0.28577	0.4989:0.3065:0.1946:0.0	.	396	P32238	CCKAR_HUMAN	V	396	ENSP00000295589:A396V	ENSP00000295589:A396V	A	-	2	0	CCKAR	26092458	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.970000	0.03810	-0.795000	0.04462	-0.244000	0.11960	GCG		0.627	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			17	77	0	0	0	1	0	17	77				
QTRT1	81890	broad.mit.edu	37	19	10823682	10823682	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:10823682T>C	ENST00000250237.5	+	9	1035	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	342					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACGGCCGCGCTGCACCACCTC	0.687																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1024-1026)cTg>cCg		queuine tRNA-ribosyltransferase 1							44.0	36.0	39.0					19																	10823682		2203	4299	6502	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823682T>C	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1025T>C	19.37:g.10823682T>C	ENSP00000250237:p.Leu342Pro						p.L342P	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		9	1035	+			342					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.1025T>C	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666720	0.29604	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.33	4.33	0.51752	.	0.062975	0.64402	U	0.000016	T	0.42675	0.1213	N	0.17901	0.54	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.36841	-0.9731	9	0.54805	T	0.06	-9.0707	12.4754	0.55809	0.0:0.0:0.0:1.0	.	342	Q9BXR0	TGT_HUMAN	P	342	.	ENSP00000250237:L342P	L	+	2	0	QTRT1	10684682	1.000000	0.71417	0.929000	0.37066	0.375000	0.29983	4.333000	0.59285	1.601000	0.50113	0.402000	0.26972	CTG		0.687	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		7	25	0	0	0	1	0	7	25				
FLNC	2318	broad.mit.edu	37	7	128488072	128488072	+	Silent	SNP	C	C	T	rs565243603		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128488072C>T	ENST00000325888.8	+	26	4791	c.4530C>T	c.(4528-4530)gaC>gaT	p.D1510D	FLNC_ENST00000346177.6_Silent_p.D1510D|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1510					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGCCACTGACGGGCCCTACA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15742	0.0		0.001	False		,,,				2504	0.0					ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4528-4530)gaC>gaT		filamin C, gamma							27.0	36.0	33.0					7																	128488072		2128	4228	6356	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488072C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4530C>T	7.37:g.128488072C>T						FLNC_ENST00000346177.6_Silent_p.D1510D	p.D1510D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			26	4791	+			1510					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4530C>T	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	9	0	0	0	1	0	6	9				
KRT77	374454	broad.mit.edu	37	12	53086233	53086233	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53086233G>A	ENST00000341809.3	-	7	1427	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	KRT77_ENST00000537195.1_Missense_Mutation_p.R234C|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	467	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R467S(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCAGCTGGCGGTAGGTGGCG	0.632																																						ENST00000341809.3																			1	Substitution - Missense(1)	p.R467S(1)	lung(1)	NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1399-1401)Cgc>Tgc		keratin 77							53.0	46.0	49.0					12																	53086233		2203	4299	6502	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53086233G>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1399C>T	12.37:g.53086233G>A	ENSP00000342710:p.Arg467Cys					KRT77_ENST00000537195.1_Missense_Mutation_p.R234C	p.R467C	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN			7	1427	-			467			Coil 2.|Rod.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.1399C>T	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916707	0.33815	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.94828	-3.53;-3.53	4.29	-1.72	0.08107	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.93099	0.7803	M	0.93462	3.42	0.39590	D	0.969569	B	0.33857	0.429	B	0.31290	0.127	D	0.87125	0.2193	9	0.72032	D	0.01	.	1.2809	0.02040	0.2559:0.0967:0.3511:0.2963	.	467	Q7Z794	K2C1B_HUMAN	C	467;234	ENSP00000342710:R467C;ENSP00000440803:R234C	ENSP00000342710:R467C	R	-	1	0	KRT77	51372500	0.998000	0.40836	0.832000	0.32986	0.478000	0.33099	0.579000	0.23788	-0.206000	0.10203	0.407000	0.27541	CGC		0.632	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		13	63	0	0	0	1	0	13	63				
CTC1	80169	broad.mit.edu	37	17	8138396	8138396	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8138396T>C	ENST00000315684.8	-	8	1421	c.1414A>G	c.(1414-1416)Aag>Gag	p.K472E	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	472					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCCAGGGCCTTGGTAGCCCAC	0.632																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1414-1416)Aag>Gag		CTS telomere maintenance complex component 1							44.0	47.0	46.0					17																	8138396		2056	4207	6263	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138396T>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1414A>G	17.37:g.8138396T>C	ENSP00000313759:p.Lys472Glu						p.K472E	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1421	-			472					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1414A>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	t	15.28	2.787560	0.49997	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83075	-1.68;-1.68	4.91	4.91	0.64330	.	0.412734	0.23920	N	0.043257	T	0.79275	0.4418	L	0.57536	1.79	0.32501	N	0.538873	P	0.44139	0.827	B	0.44133	0.442	T	0.78324	-0.2248	10	0.10377	T	0.69	-12.4552	10.866	0.46856	0.0:0.0:0.0:1.0	.	472	Q2NKJ3	CTC1_HUMAN	E	472;437	ENSP00000313759:K472E;ENSP00000396018:K437E	ENSP00000313759:K472E	K	-	1	0	CTC1	8079121	0.706000	0.27856	0.986000	0.45419	0.992000	0.81027	4.182000	0.58310	2.069000	0.61940	0.411000	0.27672	AAG		0.632	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		5	63	0	0	0	1	0	5	63				
KMT2D	8085	broad.mit.edu	37	12	49434174	49434174	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49434174C>A	ENST00000301067.7	-	31	7378	c.7379G>T	c.(7378-7380)cGt>cTt	p.R2460L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2460	Pro-rich.		R -> C. {ECO:0000269|PubMed:21280141}.		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)										AAATGGGTCACGGGACTGAGG	0.632																																						ENST00000301067.7																			0											c.(7378-7380)cGt>cTt		lysine (K)-specific methyltransferase 2D							44.0	50.0	48.0					12																	49434174		1990	4153	6143	SO:0001583	missense	8085							g.chr12:49434174C>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.7379G>T	12.37:g.49434174C>A	ENSP00000301067:p.Arg2460Leu						p.R2460L	NM_003482.3	NP_003473.3					31	7378	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7379G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603103	0.28534	.	.	ENSG00000167548	ENST00000301067	T	0.80123	-1.34	5.21	5.21	0.72293	.	0.000000	0.37761	N	0.001943	D	0.84822	0.5557	L	0.43152	1.355	0.34900	D	0.746379	D	0.65815	0.995	P	0.59357	0.856	D	0.89377	0.3679	10	0.87932	D	0	.	17.9117	0.88936	0.0:1.0:0.0:0.0	.	2460	O14686	MLL2_HUMAN	L	2460	ENSP00000301067:R2460L	ENSP00000301067:R2460L	R	-	2	0	MLL2	47720441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.683000	0.54663	2.596000	0.87737	0.591000	0.81541	CGT		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	74	1	0	5.35267e-07	1	5.45012e-07	17	74				
PDE4D	5144	broad.mit.edu	37	5	59064275	59064275	+	Intron	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:59064275G>A	ENST00000340635.6	-	1	631				PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.P21S|PDE4D_ENST00000507116.1_Missense_Mutation_p.P21S|PDE4D_ENST00000502484.2_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CACGGGTTTGGACAATGCGGA	0.498																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(61-63)Cca>Tca		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						234.0	219.0	223.0					5																	59064275		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064275G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124719C>T	5.37:g.59064275G>A						PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.P21S|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron	p.P21S	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	196	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.61C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246871	0.39697	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;T	0.79845	-0.02;-1.31	5.36	1.3	0.21679	.	.	.	.	.	T	0.72843	0.3511	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.67647	-0.5617	8	0.56958	D	0.05	.	12.3492	0.55139	0.0682:0.3468:0.5851:0.0	.	21;21	Q08499-12;Q08499-6	.;.	S	21	ENSP00000424852:P21S;ENSP00000425917:P21S	ENSP00000308485:P21S	P	-	1	0	PDE4D	59100032	0.995000	0.38212	0.960000	0.40013	0.989000	0.77384	1.595000	0.36708	0.362000	0.24319	-0.140000	0.14226	CCA		0.498	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			11	96	0	0	0	1	0	11	96				
GGCT	79017	broad.mit.edu	37	7	30538451	30538451	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:30538451C>T	ENST00000275428.4	-	3	525	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	GGCT_ENST00000409436.1_Missense_Mutation_p.E131K|GGCT_ENST00000598361.1_Missense_Mutation_p.E46K|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	131					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GGAGCACTTTCGTAATTTGTC	0.343																																						ENST00000275428.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(391-393)Gaa>Aaa		gamma-glutamylcyclotransferase							154.0	145.0	148.0					7																	30538451		2203	4300	6503	SO:0001583	missense	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538451C>T	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.391G>A	7.37:g.30538451C>T	ENSP00000275428:p.Glu131Lys					GGCT_ENST00000409436.1_Missense_Mutation_p.E131K|GGCT_ENST00000598361.1_Missense_Mutation_p.E46K|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron	p.E131K	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	525	-			131					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	c.391G>A	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200076	0.09652	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	3.74	0.42951	Butirosin biosynthesis, BtrG-like (1);	0.545165	0.19272	N	0.118371	T	0.41719	0.1171	L	0.41236	1.265	0.58432	D	0.999999	B;B	0.24043	0.096;0.037	B;B	0.17979	0.02;0.013	T	0.12656	-1.0539	9	0.13108	T	0.6	-5.4702	7.2384	0.26082	0.0:0.7121:0.1405:0.1474	.	131;70	O75223;E7EU55	GGCT_HUMAN;.	K	131;70;131	.	ENSP00000275428:E131K	E	-	1	0	GGCT	30504976	0.554000	0.26522	0.332000	0.25469	0.725000	0.41563	1.258000	0.32944	0.817000	0.34445	-0.145000	0.13849	GAA		0.343	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		12	53	0	0	0	1	0	12	53				
MYO5A	4644	broad.mit.edu	37	15	52664400	52664400	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:52664400C>T	ENST00000399231.3	-	21	2981	c.2738G>A	c.(2737-2739)cGc>cAc	p.R913H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R913H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R913H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R913H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R913H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	913	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCCACTGAGCGAGCCTCGAT	0.522																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2737-2739)cGc>cAc		myosin VA (heavy chain 12, myoxin)							73.0	70.0	71.0					15																	52664400		1991	4175	6166	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664400C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2738G>A	15.37:g.52664400C>T	ENSP00000382177:p.Arg913His					MYO5A_ENST00000356338.6_Missense_Mutation_p.R913H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R913H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R913H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R913H	p.R913H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2981	-			913			IQ 6.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2738G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584713	0.96578	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.89095	3.005	0.80722	D	1	D;P	0.76494	0.999;0.925	D;B	0.66979	0.948;0.271	T	0.72597	-0.4245	10	0.87932	D	0	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	913;913	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	913;447;913;913;913;543;913	ENSP00000382177:R913H;ENSP00000382179:R913H;ENSP00000348693:R913H;ENSP00000350945:R913H;ENSP00000451109:R913H	ENSP00000348693:R913H	R	-	2	0	MYO5A	50451692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.890000	0.99128	0.650000	0.86243	CGC		0.522	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	35	0	0	0	1	0	12	35				
CPT1C	126129	broad.mit.edu	37	19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:50208490G>A	ENST00000392518.4	+	10	1271	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.587																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(898-900)cGc>cAc		carnitine palmitoyltransferase 1C							158.0	144.0	149.0					19																	50208490		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208490G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.899G>A	19.37:g.50208490G>A	ENSP00000376303:p.Arg300His					CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H	p.R300H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1271	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	300					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.899G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042169	0.75732	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.34	4.34	0.51931	.	0.000000	0.48767	D	0.000176	D	0.87418	0.6172	N	0.12569	0.235	0.28575	N	0.910444	P;D;D;P	0.76494	0.838;0.999;0.987;0.888	P;D;P;P	0.66196	0.49;0.942;0.616;0.806	T	0.82561	-0.0396	10	0.87932	D	0	-25.342	12.2071	0.54358	0.0:0.0:1.0:0.0	.	171;300;289;300	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	H	300;300;289;300;171	ENSP00000376303:R300H;ENSP00000346138:R300H;ENSP00000384465:R289H;ENSP00000319343:R300H	ENSP00000295404:R171H	R	+	2	0	CPT1C	54900302	0.948000	0.32251	0.777000	0.31699	0.956000	0.61745	-0.232000	0.09055	2.260000	0.74910	0.561000	0.74099	CGC		0.587	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		20	98	0	0	0	1	0	20	98				
COL6A1	1291	broad.mit.edu	37	21	47407560	47407560	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:47407560G>A	ENST00000361866.3	+	8	910	c.796G>A	c.(796-798)Ggc>Agc	p.G266S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	266	Triple-helical region.				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)		GGGCGACCCCGGCTTTGAGGT	0.682																																						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.(796-798)Ggc>Agc		collagen, type VI, alpha 1	Palifermin(DB00039)						33.0	44.0	40.0					21																	47407560		2199	4299	6498	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47407560G>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.796G>A	21.37:g.47407560G>A	ENSP00000355180:p.Gly266Ser						p.G266S	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	8	910	+	all_hematologic(128;0.24)		266			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.796G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291716	0.59976	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99329	-5.75	3.92	3.92	0.45320	.	0.224851	0.37623	N	0.002016	D	0.99536	0.9834	H	0.97186	3.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.76071	0.987	D	0.98336	1.0536	10	0.66056	D	0.02	-40.9949	10.0815	0.42393	0.0947:0.0:0.9053:0.0	.	266	P12109	CO6A1_HUMAN	S	266	ENSP00000355180:G266S	ENSP00000355180:G266S	G	+	1	0	COL6A1	46231988	1.000000	0.71417	0.502000	0.27614	0.234000	0.25298	7.211000	0.77933	1.888000	0.54679	0.313000	0.20887	GGC		0.682	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		10	62	0	0	0	1	0	10	62				
AP1G2	8906	broad.mit.edu	37	14	24031220	24031220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24031220G>A	ENST00000308724.5	-	16	2439	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q562*|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	562					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACAGCCCGCTGCTGCAGCTCC	0.602											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1684-1686)Cag>Tag		adaptor-related protein complex 1, gamma 2 subunit							58.0	48.0	51.0					14																	24031220		2203	4300	6503	SO:0001587	stop_gained	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24031220G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1684C>T	14.37:g.24031220G>A	ENSP00000312442:p.Gln562*		OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q562*	p.Q562*	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	16	2439	-	all_cancers(95;0.000251)		562					D3DS51|O75504	Nonsense_Mutation	SNP	ENST00000308724.5	37	c.1684C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	45	11.644087	0.99586	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5373	15.7009	0.77541	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;331;417	.	ENSP00000312442:Q562X	Q	-	1	0	AP1G2	23101060	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	8.799000	0.91895	2.584000	0.87258	0.462000	0.41574	CAG		0.602	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		7	20	0	0	0	1	0	7	20				
LHX6	26468	broad.mit.edu	37	9	124975893	124975893	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:124975893T>C	ENST00000373755.2	-	7	1067	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	LHX6_ENST00000340587.3_Missense_Mutation_p.Y349C|LHX6_ENST00000541397.2_Missense_Mutation_p.Y338C|LHX6_ENST00000559895.1_Missense_Mutation_p.Y133C|LHX6_ENST00000482062.1_Missense_Mutation_p.Y7C|LHX6_ENST00000464484.2_Missense_Mutation_p.Y7C|LHX6_ENST00000373754.2_Missense_Mutation_p.Y320C|LHX6_ENST00000394319.4_Missense_Mutation_p.Y349C	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	320					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						ACTCTCAATGTAGCCGTGCAG	0.736																																						ENST00000559895.1																			0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(397-399)tAc>tGc		LIM homeobox 6							16.0	24.0	21.0					9																	124975893		2198	4296	6494	SO:0001583	missense	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124975893T>C	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.959A>G	9.37:g.124975893T>C	ENSP00000362860:p.Tyr320Cys					LHX6_ENST00000541397.2_Missense_Mutation_p.Y338C|LHX6_ENST00000482062.1_Missense_Mutation_p.Y7C|LHX6_ENST00000340587.3_Missense_Mutation_p.Y349C|LHX6_ENST00000394319.4_Missense_Mutation_p.Y349C|LHX6_ENST00000464484.2_Missense_Mutation_p.Y7C|LHX6_ENST00000373755.2_Missense_Mutation_p.Y320C|LHX6_ENST00000373754.2_Missense_Mutation_p.Y320C	p.Y133C	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN			5	1276	-			320			LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	c.398A>G	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902078	0.92035	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.88124	-2.34;-2.31;-2.24;-2.19;-2.23	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.32530	0.975	0.44508	D	0.99745	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.996	D	0.89539	0.3791	10	0.42905	T	0.14	.	14.9163	0.70801	0.0:0.0:0.0:1.0	.	320;349;349	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	C	320;320;349;349;338	ENSP00000362860:Y320C;ENSP00000362859:Y320C;ENSP00000377854:Y349C;ENSP00000340137:Y349C;ENSP00000441464:Y338C	ENSP00000340137:Y349C	Y	-	2	0	LHX6	124015714	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.617000	0.83032	2.125000	0.65367	0.528000	0.53228	TAC		0.736	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		7	25	0	0	0	1	0	7	25				
GLYATL1	92292	broad.mit.edu	37	11	58722740	58722740	+	Silent	SNP	G	G	A	rs370872373		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58722740G>A	ENST00000317391.4	+	7	745	c.405G>A	c.(403-405)acG>acA	p.T135T	RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Silent_p.T166T	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	135						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TCTTGGTTACGGAAGATATTC	0.443																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(496-498)acG>acA		glycine-N-acyltransferase-like 1	Glycine(DB00145)	G	,,	1,4401		0,1,2200	91.0	88.0	89.0		405,405,498	-3.5	0.0	11		89	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	GLYATL1	NM_001220494.1,NM_001220496.1,NM_080661.3	,,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,,	135/303,135/303,166/334	58722740	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722740G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.405G>A	11.37:g.58722740G>A						GLYATL1_ENST00000317391.4_Silent_p.T135T|RP11-142C4.6_ENST00000533954.1_RNA	p.T166T	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			6	548	+			135					A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	ENST00000317391.4	37	c.498G>A	CCDS55768.1																																																																																				0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		8	67	0	0	0	1	0	8	67				
NID2	22795	broad.mit.edu	37	14	52481974	52481974	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:52481974C>T	ENST00000216286.5	-	15	3047	c.3048G>A	c.(3046-3048)ccG>ccA	p.P1016P	NID2_ENST00000541773.1_Silent_p.P915P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1016	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACAGATGGTCGGGGGCCTCT	0.577																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3046-3048)ccG>ccA		nidogen 2 (osteonidogen)							32.0	33.0	33.0					14																	52481974		2199	4298	6497	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481974C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3048G>A	14.37:g.52481974C>T						NID2_ENST00000541773.1_Silent_p.P915P	p.P1016P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			15	3047	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1016			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.3048G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398820	0.11696	.	.	ENSG00000087303	ENST00000556572	.	.	.	6.03	0.977	0.19733	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	.	9.3582	0.38179	0.0:0.5466:0.3305:0.1228	.	.	.	.	N	285	.	.	D	-	1	0	NID2	51551724	0.001000	0.12720	0.013000	0.15412	0.772000	0.43724	-0.112000	0.10791	-0.085000	0.12573	-0.885000	0.02943	GAC		0.577	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			9	47	0	0	0	1	0	9	47				
PAN2	9924	broad.mit.edu	37	12	56713245	56713245	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56713245C>T	ENST00000425394.2	-	23	3505	c.3129G>A	c.(3127-3129)tcG>tcA	p.S1043S	PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	198					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)	p.S1039S(1)		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)	GCTTTATACCCGAGTATTGAG	0.443																																						ENST00000425394.2																			1	Substitution - coding silent(1)	p.S1039S(1)	lung(1)	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.(3127-3129)tcG>tcA		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							158.0	153.0	154.0					12																	56713245		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:56713245C>T	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.3129G>A	12.37:g.56713245C>T						PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S|PAN2_ENST00000549090.1_5'UTR	p.S1043S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			23	3505	-			1043			Exonuclease.			Silent	SNP	ENST00000425394.2	37	c.3129G>A	CCDS44922.1																																																																																				0.443	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		10	64	0	0	0	1	0	10	64				
MSL3P1	151507	broad.mit.edu	37	2	234775651	234775651	+	RNA	SNP	C	C	T	rs551898491		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234775651C>T	ENST00000438684.1	-	0	463					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GTGATGGTGACGAGGCCTCTC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		20856	0.0		0.0	False		,,,				2504	0.001					ENST00000438684.1																			0																				302.0	231.0	253.0					2																	234775651		692	1591	2283			0							g.chr2:234775651C>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775651C>T								NR_024322.1						0	463	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.438	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		7	35	0	0	0	1	0	7	35				
PCDHGA5	56110	broad.mit.edu	37	5	140744399	140744399	+	Missense_Mutation	SNP	C	C	T	rs538468873		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140744399C>T	ENST00000518069.1	+	1	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	168	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(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACTCTCTCCGGAGTTACCA	0.512																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(502-504)Cgg>Tgg									53.0	56.0	55.0					5																	140744399		2024	4186	6210	SO:0001583	missense	0							g.chr5:140744399C>T	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.502C>T	5.37:g.140744399C>T	ENSP00000429834:p.Arg168Trp					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R168W	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	502	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.502C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.17	3.047650	0.55110	.	.	ENSG00000253485	ENST00000518069	T	0.51574	0.7	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63379	0.2506	M	0.68317	2.08	0.28346	N	0.921137	D;D	0.54397	0.958;0.966	P;P	0.58970	0.764;0.849	T	0.60362	-0.7278	9	0.87932	D	0	.	13.8617	0.63564	0.1529:0.8471:0.0:0.0	.	168;168	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	W	168	ENSP00000429834:R168W	ENSP00000429834:R168W	R	+	1	2	PCDHGA5	140724583	0.000000	0.05858	0.989000	0.46669	0.416000	0.31233	0.237000	0.17985	2.628000	0.89032	0.563000	0.77884	CGG		0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		3	26	0	0	0	1	0	3	26				
HTRA4	203100	broad.mit.edu	37	8	38835668	38835668	+	Splice_Site	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:38835668T>C	ENST00000302495.4	+	4	1066		c.e4+2			NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACAATTAATGTAAGTCACTTA	0.537																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.e4+2		HtrA serine peptidase 4							69.0	61.0	64.0					8																	38835668		2203	4300	6503	SO:0001630	splice_region_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38835668T>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.966+2T>C	8.37:g.38835668T>C								NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	1066	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)						Q542Z4|Q6PF13	Splice_Site	SNP	ENST00000302495.4	37		CCDS6110.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979253	0.53827	.	.	ENSG00000169495	ENST00000302495	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0705	0.72034	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTRA4	38954825	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.191000	0.72063	2.199000	0.70637	0.533000	0.62120	.		0.537	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692	Intron	5	14	0	0	0	1	0	5	14				
KIAA0556	23247	broad.mit.edu	37	16	27689214	27689214	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:27689214C>T	ENST00000261588.4	+	7	724	c.705C>T	c.(703-705)ggC>ggT	p.G235G	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	235						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTTCCAGTGGCGACTGGACTC	0.562																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(703-705)ggC>ggT		KIAA0556							64.0	61.0	62.0					16																	27689214		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27689214C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.705C>T	16.37:g.27689214C>T						KIAA0556_ENST00000567894.1_3'UTR	p.G235G	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			7	724	+			235					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.705C>T	CCDS32415.1																																																																																				0.562	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		10	51	0	0	0	1	0	10	51				
VILL	50853	broad.mit.edu	37	3	38039124	38039124	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:38039124A>G	ENST00000283713.6	+	7	978	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.T238A			O15195	VILL_HUMAN	villin-like	238					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGTGCCGCCACGCCCAGCAA	0.632																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(712-714)Acg>Gcg		villin-like							60.0	55.0	56.0					3																	38039124		2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38039124A>G		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.712A>G	3.37:g.38039124A>G	ENSP00000283713:p.Thr238Ala					VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.T238A	p.T238A			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	7	978	+			238					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.712A>G	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	A	2.943	-0.218431	0.06101	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246	T;T	0.12984	2.63;2.63	4.16	-1.62	0.08372	.	0.683510	0.15318	N	0.268711	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.25405	0.06;0.002	T	0.40887	-0.9539	10	0.08599	T	0.76	-1.3017	2.1993	0.03919	0.3124:0.1421:0.4053:0.1402	.	238;238	O15195-2;O15195	.;VILL_HUMAN	A	238	ENSP00000283713:T238A;ENSP00000373266:T238A	ENSP00000283713:T238A	T	+	1	0	VILL	38014128	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.485000	0.02314	-0.136000	0.11475	0.533000	0.62120	ACG		0.632	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		8	54	0	0	0	1	0	8	54				
SPTLC3	55304	broad.mit.edu	37	20	13098266	13098266	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13098266G>A	ENST00000399002.2	+	8	1320	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	349					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CCAACCGGCCGGGGTGTCACG	0.498																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1045-1047)cGg>cAg		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						96.0	99.0	98.0					20																	13098266		1858	4096	5954	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098266G>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1046G>A	20.37:g.13098266G>A	ENSP00000381968:p.Arg349Gln					SPTLC3_ENST00000378194.4_Intron	p.R349Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1320	+			349					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1046G>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967376	0.92855	.	.	ENSG00000172296	ENST00000399002	D	0.95518	-3.73	6.16	4.18	0.49190	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048089	0.85682	N	0.000000	D	0.97359	0.9136	M	0.93016	3.37	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	D	0.97750	1.0214	10	0.72032	D	0.01	-7.3572	11.9827	0.53129	0.1883:0.0:0.8117:0.0	.	349	Q9NUV7	SPTC3_HUMAN	Q	349	ENSP00000381968:R349Q	ENSP00000381968:R349Q	R	+	2	0	SPTLC3	13046266	1.000000	0.71417	0.992000	0.48379	0.904000	0.53231	3.854000	0.55949	1.595000	0.50050	0.650000	0.86243	CGG		0.498	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		8	94	0	0	0	1	0	8	94				
KIF21B	23046	broad.mit.edu	37	1	200968581	200968581	+	Missense_Mutation	SNP	C	C	T	rs373134245		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:200968581C>T	ENST00000422435.2	-	13	2097	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.R594Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R594Q|KIF21B_ENST00000332129.2_Missense_Mutation_p.R594Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	594					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						ACTCTCGTCTCGCTCTTCCTC	0.632																																						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.(1780-1782)cGa>cAa		kinesin family member 21B			GLN/ARG	0,4406		0,0,2203	115.0	90.0	98.0		1781	0.4	1.0	1		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF21B	NM_017596.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	594/1625	200968581	1,13005	2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200968581C>T	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.1781G>A	1.37:g.200968581C>T	ENSP00000411831:p.Arg594Gln					KIF21B_ENST00000360529.5_Missense_Mutation_p.R594Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R594Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R594Q	p.R594Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			13	2097	-			594					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1781G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.561303	0.27915	0.0	1.16E-4	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70282	2.02;-0.47;2.02;-0.2	4.75	0.4	0.16331	.	0.592901	0.16118	N	0.228788	T	0.36963	0.0986	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12013	0.003;0.003;0.001;0.005	B;B;B;B	0.06405	0.001;0.001;0.0;0.002	T	0.21552	-1.0242	10	0.13470	T	0.59	.	4.9543	0.14031	0.0:0.4073:0.2746:0.3181	.	594;594;594;594	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	594	ENSP00000328494:R594Q;ENSP00000353724:R594Q;ENSP00000433808:R594Q;ENSP00000411831:R594Q	ENSP00000328494:R594Q	R	-	2	0	KIF21B	199235204	0.092000	0.21681	0.978000	0.43139	0.800000	0.45204	0.472000	0.22116	0.183000	0.20059	-0.359000	0.07587	CGA		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	81	0	0	0	1	0	18	81				
FAM101A	144347	broad.mit.edu	37	12	124798868	124798868	+	Missense_Mutation	SNP	C	C	A	rs199878238		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124798868C>A	ENST00000389727.3	+	3	448	c.448C>A	c.(448-450)Cgc>Agc	p.R150S	FAM101A_ENST00000338359.4_Missense_Mutation_p.R69S|FAM101A_ENST00000324038.3_Missense_Mutation_p.R69S|FAM101A_ENST00000546355.1_Missense_Mutation_p.R69S			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	150										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCAACTACCGCAGCCAGCT	0.642																																						ENST00000324038.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(205-207)Cgc>Agc		family with sequence similarity 101, member A							102.0	91.0	95.0					12																	124798868		2203	4300	6503	SO:0001583	missense	144347							g.chr12:124798868C>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.448C>A	12.37:g.124798868C>A	ENSP00000374377:p.Arg150Ser					FAM101A_ENST00000389727.3_Missense_Mutation_p.R150S|FAM101A_ENST00000546355.1_Missense_Mutation_p.R69S|FAM101A_ENST00000338359.4_Missense_Mutation_p.R69S	p.R69S	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	448	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		150					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.615453	0.66672	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	2.64	0.31445	.	0.176310	0.45867	D	0.000327	T	0.41811	0.1175	L	0.46157	1.445	0.39867	D	0.973451	P	0.35226	0.491	B	0.35931	0.214	T	0.43686	-0.9376	9	0.87932	D	0	-15.909	5.7074	0.17915	0.4445:0.4468:0.0:0.1087	.	150	Q6ZTI6	F101A_HUMAN	S	69;69;150;69;69	.	ENSP00000315626:R69S	R	+	1	0	FAM101A	123364821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.300000	0.59079	0.967000	0.38186	0.555000	0.69702	CGC		0.642	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		15	110	1	0	3.52763e-06	1	3.56688e-06	15	110				
NDST1	3340	broad.mit.edu	37	5	149915319	149915319	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149915319T>C	ENST00000261797.6	+	6	1811	c.1309T>C	c.(1309-1311)Tac>Cac	p.Y437H	NDST1_ENST00000523767.1_Missense_Mutation_p.Y437H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	437	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGGCGTGTACCCCGTGCA	0.642																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1309-1311)Tac>Cac		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							83.0	69.0	74.0					5																	149915319		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149915319T>C	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1309T>C	5.37:g.149915319T>C	ENSP00000261797:p.Tyr437His					NDST1_ENST00000523767.1_Missense_Mutation_p.Y437H	p.Y437H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1811	+		all_hematologic(541;0.224)	437			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1309T>C	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012793	0.75161	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.64438	-0.1;0.3	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.79475	2.455	0.80722	D	1	D;B;P	0.89917	1.0;0.178;0.529	D;B;B	0.85130	0.997;0.188;0.33	T	0.82408	-0.0472	10	0.87932	D	0	.	14.6414	0.68729	0.0:0.0:0.0:1.0	.	437;437;437	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	H	437	ENSP00000428604:Y437H;ENSP00000261797:Y437H	ENSP00000261797:Y437H	Y	+	1	0	NDST1	149895512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.991000	0.88244	1.923000	0.55706	0.533000	0.62120	TAC		0.642	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		13	48	0	0	0	1	0	13	48				
FZD1	8321	broad.mit.edu	37	7	90894692	90894692	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:90894692A>G	ENST00000287934.2	+	1	910	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	166	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCTGAGCTCAAGTTCTTCCTG	0.657																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(496-498)aAg>aGg		frizzled family receptor 1							150.0	144.0	146.0					7																	90894692		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894692A>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.497A>G	7.37:g.90894692A>G	ENSP00000287934:p.Lys166Arg						p.K166R	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	910	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		166			FZ.		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.497A>G	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	9.168	1.020300	0.19433	.	.	ENSG00000157240	ENST00000287934	T	0.75589	-0.95	4.55	4.55	0.56014	Frizzled domain (5);	0.000000	0.64402	D	0.000002	T	0.55000	0.1893	N	0.12443	0.215	0.53688	D	0.999979	B	0.16166	0.016	B	0.16722	0.016	T	0.51276	-0.8726	10	0.11182	T	0.66	.	14.0469	0.64710	1.0:0.0:0.0:0.0	.	166	Q9UP38	FZD1_HUMAN	R	166	ENSP00000287934:K166R	ENSP00000287934:K166R	K	+	2	0	FZD1	90732628	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.089000	0.64492	1.912000	0.55364	0.459000	0.35465	AAG		0.657	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		25	155	0	0	0	1	0	25	155				
DMXL1	1657	broad.mit.edu	37	5	118487710	118487710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:118487710C>T	ENST00000311085.8	+	19	4761	c.4681C>T	c.(4681-4683)Cga>Tga	p.R1561*	MIR5706_ENST00000579841.1_RNA|DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1561*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1561										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)		TCCAGCCTATCGAGCTCAACT	0.383																																						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.(4681-4683)Cga>Tga		Dmx-like 1							162.0	150.0	154.0					5																	118487710		2202	4300	6502	SO:0001587	stop_gained	1657							g.chr5:118487710C>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.4681C>T	5.37:g.118487710C>T	ENSP00000309690:p.Arg1561*					DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1561*	p.R1561*	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)	19	4761	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1561						Nonsense_Mutation	SNP	ENST00000311085.8	37	c.4681C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	44	11.176240	0.99526	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.68	4.8	0.61643	.	0.133712	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0131	13.261	0.60104	0.4084:0.5916:0.0:0.0	.	.	.	.	X	1561	.	ENSP00000309690:R1561X	R	+	1	2	DMXL1	118515609	0.829000	0.29322	1.000000	0.80357	0.976000	0.68499	0.239000	0.18023	1.349000	0.45751	0.563000	0.77884	CGA		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		5	46	0	0	0	1	0	5	46				
CCL17	6361	broad.mit.edu	37	16	57447847	57447847	+	Start_Codon_SNP	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:57447847G>A	ENST00000219244.4	+	2	132	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	1					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CTGGCACCATGGCCCCACTGA	0.642																																						ENST00000219244.4																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1-3)atG>atA		chemokine (C-C motif) ligand 17							29.0	24.0	26.0					16																	57447847		2198	4300	6498	SO:0001582	initiator_codon_variant	6361				cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity	g.chr16:57447847G>A	D43767	CCDS10780.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102970	ENSG00000102970		"""Chemokine ligands"", ""Endogenous ligands"""	10615	protein-coding gene	gene with protein product		601520	"""small inducible cytokine subfamily A (Cys-Cys), member 17"""	SCYA17		8702936, 9070951	Standard	NM_002987		Approved	TARC, ABCD-2	uc002elj.1	Q92583	OTTHUMG00000133468	ENST00000219244.4:c.3G>A	16.37:g.57447847G>A	ENSP00000219244:p.Met1Ile						p.M1I	NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN			2	132	+			1					A0N0Q9|Q2M287	Translation_Start_Site	SNP	ENST00000219244.4	37	c.3G>A	CCDS10780.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535841	0.64972	.	.	ENSG00000102970	ENST00000219244	T	0.02345	4.33	5.24	5.24	0.73138	.	0.169305	0.28589	N	0.014817	T	0.02929	0.0087	.	.	.	0.23537	N	0.997468	P	0.39809	0.689	B	0.30716	0.119	T	0.44050	-0.9353	9	0.72032	D	0.01	-50.1231	14.6671	0.68915	0.0:0.0:1.0:0.0	.	1	Q92583	CCL17_HUMAN	I	1	ENSP00000219244:M1I	ENSP00000219244:M1I	M	+	3	0	CCL17	56005348	0.979000	0.34478	0.474000	0.27266	0.215000	0.24574	2.932000	0.48940	2.594000	0.87642	0.655000	0.94253	ATG		0.642	CCL17-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257344.1	NM_002987	Missense_Mutation	5	10	0	0	0	1	0	5	10				
MMRN2	79812	broad.mit.edu	37	10	88702895	88702895	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88702895G>A	ENST00000372027.5	-	6	1967	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	549					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCTTTGTGCGCGTCCACGGC	0.751																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1645-1647)gCg>gTg		multimerin 2							5.0	5.0	5.0					10																	88702895		2036	3851	5887	SO:0001583	missense	79812					extracellular space		g.chr10:88702895G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1646C>T	10.37:g.88702895G>A	ENSP00000361097:p.Ala549Val						p.A549V	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1719	-			549					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1646C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703475	0.15172	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71341	-0.56	5.59	-1.19	0.09585	.	0.712920	0.13258	N	0.401543	T	0.56337	0.1978	L	0.55481	1.735	0.09310	N	1	B;B;B	0.28801	0.223;0.046;0.223	B;B;B	0.22386	0.039;0.006;0.006	T	0.40327	-0.9569	10	0.30854	T	0.27	-3.2417	4.9034	0.13786	0.2289:0.0:0.3331:0.438	.	327;488;549	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	V	549;327	ENSP00000361097:A549V	ENSP00000361097:A549V	A	-	2	0	MMRN2	88692875	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.035000	0.03564	-0.177000	0.10690	0.462000	0.41574	GCG		0.751	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		3	7	0	0	0	1	0	3	7				
PPP1R3A	5506	broad.mit.edu	37	7	113558764	113558764	+	Silent	SNP	C	C	T	rs111896635		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:113558764C>T	ENST00000284601.3	-	1	356	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	96					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				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						GGAAAATGTCCGTCCCTAAGT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18568	0.0		0.0	False		,,,				2504	0.0					ENST00000284601.3																			0				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.(286-288)acG>acA		protein phosphatase 1, regulatory subunit 3A		C		4,4402	8.1+/-20.4	0,4,2199	100.0	95.0	97.0		288	-0.9	0.0	7	dbSNP_132	97	0,8600		0,0,4300	no	coding-synonymous	PPP1R3A	NM_002711.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		96/1123	113558764	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558764C>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.288G>A	7.37:g.113558764C>T							p.T96T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	356	-			96					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.288G>A	CCDS5759.1																																																																																				0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		11	55	0	0	0	1	0	11	55				
DCC	1630	broad.mit.edu	37	18	50994313	50994313	+	Silent	SNP	G	G	A	rs200234919	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:50994313G>A	ENST00000442544.2	+	25	4285	c.3669G>A	c.(3667-3669)tcG>tcA	p.S1223S	DCC_ENST00000581580.1_Silent_p.S858S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1223					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)		TGGAGAGGTCGCTGGCTGCAC	0.522													g|||	3	0.000599042	0.0	0.0	5008	,	,		14563	0.0		0.003	False		,,,				2504	0.0					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.(3667-3669)tcG>tcA		deleted in colorectal carcinoma							103.0	97.0	99.0					18																	50994313		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.chr18:50994313G>A	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.3669G>A	18.37:g.50994313G>A						DCC_ENST00000581580.1_Silent_p.S858S	p.S1223S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	25	4285	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1223						Silent	SNP	ENST00000442544.2	37	c.3669G>A	CCDS11952.1																																																																																				0.522	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		16	61	0	0	0	1	0	16	61				
WWC1	23286	broad.mit.edu	37	5	167868736	167868736	+	Missense_Mutation	SNP	C	C	T	rs368353585		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:167868736C>T	ENST00000265293.4	+	16	2832	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	WWC1_ENST00000521089.1_Missense_Mutation_p.S777L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	777	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGGAGAGGTCGACTCGCTGG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16346	0.001		0.0	False		,,,				2504	0.0					ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2329-2331)tCg>tTg		WW and C2 domain containing 1		C	LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	50.0	52.0	51.0		2330,2330,2330	3.5	1.0	5		51	0,8600		0,0,4300	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	145,145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	777/1120,777/1119,777/1114	167868736	2,13004	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167868736C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2330C>T	5.37:g.167868736C>T	ENSP00000265293:p.Ser777Leu					WWC1_ENST00000521089.1_Missense_Mutation_p.S777L|WWC1_ENST00000522140.1_3'UTR	p.S777L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	16	2832	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	777			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2330C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102819	0.20632	4.54E-4	0.0	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.58797	0.31;0.31;0.31	5.31	3.51	0.40186	C2 calcium/lipid-binding domain, CaLB (1);	0.604659	0.16675	N	0.204182	T	0.33904	0.0879	L	0.28115	0.83	0.29836	N	0.829628	D;B;B;P	0.55605	0.972;0.006;0.004;0.826	B;B;B;B	0.36378	0.223;0.005;0.009;0.112	T	0.18524	-1.0334	10	0.11182	T	0.66	.	8.6024	0.33754	0.0:0.82:0.0:0.18	.	777;683;683;777	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	L	777;777;103	ENSP00000265293:S777L;ENSP00000427772:S777L;ENSP00000428084:S103L	ENSP00000265293:S777L	S	+	2	0	WWC1	167801314	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	2.543000	0.45752	1.249000	0.43950	0.456000	0.33151	TCG		0.607	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	47	0	0	0	1	0	7	47				
POM121C	100101267	broad.mit.edu	37	7	75053837	75053837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:75053837C>T	ENST00000257665.5	-	9	1568	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	POM121C_ENST00000453279.2_Nonsense_Mutation_p.W281*|POM121C_ENST00000473168.1_5'UTR			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	523	Pore side. {ECO:0000255}.				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						CCTGGTTGAACCACTGTAATG	0.468																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(841-843)tgG>tgA		POM121 transmembrane nucleoporin C							120.0	125.0	123.0					7																	75053837		2203	4300	6503	SO:0001587	stop_gained	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75053837C>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	ENST00000257665.5:c.1569G>A	7.37:g.75053837C>T	ENSP00000257665:p.Trp523*					POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Nonsense_Mutation_p.W523*	p.W281*	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			11	1707	-			523			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Nonsense_Mutation	SNP	ENST00000257665.5	37	c.843G>A		.	.	.	.	.	.	.	.	.	.	C	43	10.016857	0.99318	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	.	.	.	3.39	3.39	0.38822	.	0.000000	0.35124	N	0.003433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2837	0.54779	0.0:1.0:0.0:0.0	.	.	.	.	X	523;281	.	ENSP00000257665:W523X	W	-	3	0	POM121C	74891773	1.000000	0.71417	0.990000	0.47175	0.318000	0.28184	2.234000	0.43035	1.609000	0.50190	0.195000	0.17529	TGG		0.468	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		10	92	0	0	0	1	0	10	92				
ZNF91	7644	broad.mit.edu	37	19	23543822	23543822	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:23543822A>G	ENST00000300619.7	-	4	2164	c.1959T>C	c.(1957-1959)acT>acC	p.T653T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Silent_p.T621T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	653					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTTCTCTCCAGTATGAATTC	0.383																																						ENST00000300619.7																			0											c.(1957-1959)acT>acC		zinc finger protein 91							51.0	55.0	54.0					19																	23543822		2087	4224	6311	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543822A>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1959T>C	19.37:g.23543822A>G						ZNF91_ENST00000397082.2_Silent_p.T621T|ZNF91_ENST00000599743.1_Intron	p.T653T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2164	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	653					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.1959T>C	CCDS42541.1																																																																																				0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	35	0	0	0	1	0	7	35				
B4GALNT1	2583	broad.mit.edu	37	12	58022927	58022927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022927G>A	ENST00000341156.4	-	7	1299	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.R239W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGAGAACCGGACTGGGAAG	0.532																																						ENST00000341156.4																			1	Substitution - Missense(1)	p.R239W(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(715-717)Cgg>Tgg		beta-1,4-N-acetyl-galactosaminyl transferase 1							59.0	55.0	56.0					12																	58022927		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022927G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.715C>T	12.37:g.58022927G>A	ENSP00000341562:p.Arg239Trp					B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W	p.R239W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1299	-	Melanoma(17;0.122)		239					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.715C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369290	0.42003	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.19394	2.15;2.18	5.34	4.45	0.53987	.	0.210000	0.41097	D	0.000952	T	0.29783	0.0744	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62014	0.897;0.875	T	0.01596	-1.1316	10	0.72032	D	0.01	-3.0107	10.5813	0.45257	0.0903:0.0:0.9097:0.0	.	184;239	B4DE26;Q00973	.;B4GN1_HUMAN	W	239;184	ENSP00000341562:R239W;ENSP00000401601:R184W	ENSP00000341562:R239W	R	-	1	2	B4GALNT1	56309194	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	3.601000	0.54059	2.522000	0.85027	0.655000	0.94253	CGG		0.532	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		5	18	0	0	0	1	0	5	18				
HSF1	3297	broad.mit.edu	37	8	145535421	145535421	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145535421C>T	ENST00000528838.1	+	8	919	c.759C>T	c.(757-759)taC>taT	p.Y253Y	HSF1_ENST00000400780.4_Silent_p.Y188Y|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	253	Regulatory domain.				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)			CCAGCCTCTACGCCCCTGATG	0.672																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(757-759)taC>taT		heat shock transcription factor 1							40.0	41.0	41.0					8																	145535421		2203	4296	6499	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535421C>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.759C>T	8.37:g.145535421C>T						HSF1_ENST00000400780.4_Silent_p.Y188Y	p.Y253Y	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)		8	919	+	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)		253			Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.759C>T	CCDS6419.1																																																																																				0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		5	45	0	0	0	1	0	5	45				
SYN2	6854	broad.mit.edu	37	3	12187198	12187198	+	RNA	SNP	G	G	A	rs548591048		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:12187198G>A	ENST00000432424.2	+	0	719							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCAGACTTCGTGCTCATCCG	0.527																																						ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							62.0	61.0	62.0					3																	12187198		2021	4202	6223			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12187198G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12187198G>A										Q86VA8	Q86VA8_HUMAN			0	719	+								A8MY98	RNA	SNP	ENST00000432424.2	37			.	.	.	.	.	.	.	.	.	.	G	21.6	4.173799	0.78452	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.8	4.8	0.61643	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.81341	2.54	0.30859	N	0.733735	D;D	0.89917	1.0;1.0	P;P	0.62435	0.902;0.797	T	0.74907	-0.3504	9	0.87932	D	0	-11.4468	13.7854	0.63105	0.0:0.1533:0.8467:0.0	.	183;183	Q92777;Q92777-2	SYN2_HUMAN;.	M	115	.	ENSP00000442512:V115M	V	+	1	0	SYN2	12162198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.516000	0.81772	2.488000	0.83962	0.650000	0.86243	GTG		0.527	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	30	0	0	0	1	0	7	30				
PDHA2	5161	broad.mit.edu	37	4	96761273	96761273	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:96761273G>A	ENST00000295266.4	+	0	35					NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2						glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACGGGACGCCGCTGCCATCTA	0.637																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46								pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						21.0	20.0	21.0					4																	96761273		2203	4300	6503			5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761273G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.-29G>A	4.37:g.96761273G>A								NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	35	+		Hepatocellular(203;0.114)						B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Translation_Start_Site	SNP	ENST00000295266.4	37		CCDS3644.1																																																																																				0.637	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			3	4	0	0	0	1	0	3	4				
EME2	197342	broad.mit.edu	37	16	1826215	1826215	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1826215T>A	ENST00000568449.1	+	8	1137	c.1116T>A	c.(1114-1116)gaT>gaA	p.D372E	EME2_ENST00000307394.7_Missense_Mutation_p.D437E	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAACCCTGATCTCCTGCTGG	0.692								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(1309-1311)gaT>gaA	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							73.0	63.0	66.0					16																	1826215		2173	4250	6423	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1826215T>A	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.1116T>A	16.37:g.1826215T>A	ENSP00000457353:p.Asp372Glu					EME2_ENST00000568449.1_Missense_Mutation_p.D372E	p.D437E			A4GXA9	EME2_HUMAN			8	1311	+			372					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.1311T>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	t	9.030	0.986949	0.18889	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.49	-2.74	0.05932	.	0.137501	0.32473	N	0.006056	T	0.25195	0.0612	L	0.39467	1.215	0.27994	N	0.935558	B;B	0.24963	0.115;0.1	B;B	0.23574	0.039;0.047	T	0.06991	-1.0796	9	0.38643	T	0.18	-14.7596	4.5737	0.12223	0.0:0.391:0.172:0.4369	.	372;238	A4GXA9;A4GXA9-2	EME2_HUMAN;.	E	437;379	.	ENSP00000303779:D437E	D	+	3	2	EME2	1766216	0.003000	0.15002	0.262000	0.24481	0.086000	0.17979	-1.128000	0.03247	-0.679000	0.05217	-0.232000	0.12228	GAT		0.692	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		19	107	0	0	0	1	0	19	107				
PARP10	84875	broad.mit.edu	37	8	145051834	145051834	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145051834G>A	ENST00000313028.7	-	11	2990	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	PARP10_ENST00000524918.1_Missense_Mutation_p.R957W|PARP10_ENST00000525773.1_Missense_Mutation_p.R978W|PLEC_ENST00000436759.2_5'Flank|PLEC_ENST00000527096.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	966	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R966W(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACCCCGCAGAGGGGGC	0.706																																						ENST00000313028.7																			1	Substitution - Missense(1)	p.R966W(1)	breast(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2896-2898)Cgg>Tgg		poly (ADP-ribose) polymerase family, member 10							17.0	18.0	18.0					8																	145051834		2168	4266	6434	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145051834G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2896C>T	8.37:g.145051834G>A	ENSP00000325618:p.Arg966Trp					PARP10_ENST00000524918.1_Missense_Mutation_p.R957W|PARP10_ENST00000525773.1_Missense_Mutation_p.R978W	p.R966W	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	2990	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		966			PARP catalytic.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2896C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	g	13.51	2.259005	0.39896	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.14640	2.49;2.49;2.49	4.88	1.31	0.21738	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.154033	0.28493	N	0.015157	T	0.35480	0.0933	M	0.78456	2.415	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.14172	-1.0482	10	0.72032	D	0.01	.	12.7712	0.57421	0.0:0.0:0.5489:0.4511	.	978;966	E9PNI7;Q53GL7	.;PAR10_HUMAN	W	957;672;966;978	ENSP00000431620:R957W;ENSP00000325618:R966W;ENSP00000434776:R978W	ENSP00000325618:R966W	R	-	1	2	PARP10	145123822	0.004000	0.15560	0.089000	0.20774	0.083000	0.17756	0.866000	0.27954	0.378000	0.24764	0.558000	0.71614	CGG		0.706	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		3	12	0	0	0	1	0	3	12				
WIBG	84305	broad.mit.edu	37	12	56297223	56297223	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56297223G>A	ENST00000408946.2	-	2	230	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000547925.1_Silent_p.G40G|WIBG_ENST00000557259.1_Silent_p.G39G|WIBG_ENST00000398213.4_Missense_Mutation_p.R26C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	27	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGCTGCTTGCGCCAGGTCCCG	0.468																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(79-81)Cgc>Tgc		within bgcn homolog (Drosophila)							99.0	100.0	100.0					12																	56297223		1953	4141	6094	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56297223G>A	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.79C>T	12.37:g.56297223G>A	ENSP00000386156:p.Arg27Cys					WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R26C|WIBG_ENST00000547925.1_Silent_p.G40G|WIBG_ENST00000557259.1_Silent_p.G39G	p.R27C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			2	230	-			27			Required for interaction with MAGOH and RBM8A.		B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.79C>T	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561734	0.86335	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.60424	0.19;0.19	5.35	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80935	-0.1160	10	0.87932	D	0	.	12.6181	0.56588	0.0:0.0:0.7309:0.2691	.	27;26	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	C	27;26	ENSP00000386156:R27C;ENSP00000381271:R26C	ENSP00000381271:R26C	R	-	1	0	WIBG	54583490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.508000	0.53378	2.691000	0.91804	0.650000	0.86243	CGC		0.468	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		9	55	0	0	0	1	0	9	55				
CEP104	9731	broad.mit.edu	37	1	3750452	3750452	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3750452G>A	ENST00000378230.3	-	12	1957	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	545						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R545C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTGACGCGGAGGCGGGCA	0.443																																						ENST00000378230.3																			1	Substitution - Missense(1)	p.R545C(1)	breast(1)	breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1633-1635)Cgc>Tgc		centrosomal protein 104kDa							111.0	109.0	110.0					1																	3750452		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3750452G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1633C>T	1.37:g.3750452G>A	ENSP00000367476:p.Arg545Cys					CEP104_ENST00000460038.1_5'UTR	p.R545C	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			12	1957	-			545					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.1633C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621020	0.46736	.	.	ENSG00000116198	ENST00000378230	T	0.75821	-0.97	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87083	0.2167	10	0.66056	D	0.02	.	12.4703	0.55783	0.0:0.0:0.8328:0.1672	.	545;545	O60308-3;O60308	.;CE104_HUMAN	C	545	ENSP00000367476:R545C	ENSP00000367476:R545C	R	-	1	0	CEP104	3740312	1.000000	0.71417	0.040000	0.18447	0.279000	0.26890	5.279000	0.65597	2.329000	0.79093	0.467000	0.42956	CGC		0.443	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		5	53	0	0	0	1	0	5	53				
PRKCH	5583	broad.mit.edu	37	14	61924008	61924008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:61924008C>T	ENST00000332981.5	+	8	1460	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R198*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs55818778). {ECO:0000269|PubMed:17344846}.		blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGTTCATCCGAGTGTTGGG	0.488																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1075-1077)Cga>Tga		protein kinase C, eta							160.0	156.0	158.0					14																	61924008		2203	4300	6503	SO:0001587	stop_gained	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61924008C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1075C>T	14.37:g.61924008C>T	ENSP00000329127:p.Arg359*					PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R198*	p.R359*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	8	1460	+			359		R -> Q (in dbSNP:rs55818778).	Protein kinase.		B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	ENST00000332981.5	37	c.1075C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	41	8.998305	0.99031	.	.	ENSG00000027075	ENST00000332981;ENST00000555082;ENST00000557585	.	.	.	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	15.228	0.73364	0.1411:0.8589:0.0:0.0	.	.	.	.	X	359;198;198	.	ENSP00000329127:R359X	R	+	1	2	PRKCH	60993761	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.148000	0.42235	2.639000	0.89480	0.655000	0.94253	CGA		0.488	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		13	65	0	0	0	1	0	13	65				
SNX1	6642	broad.mit.edu	37	15	64418402	64418402	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:64418402C>T	ENST00000559844.1	+	6	649	c.635C>T	c.(634-636)cCg>cTg	p.P212L	SNX1_ENST00000560829.1_Intron|SNX1_ENST00000353874.4_Missense_Mutation_p.P212L|SNX1_ENST00000561026.1_Missense_Mutation_p.P147L|SNX1_ENST00000261889.5_Missense_Mutation_p.P212L			Q13596	SNX1_HUMAN	sorting nexin 1	212	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCCGCCCCCGGAGAAGAGC	0.433																																						ENST00000353874.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(634-636)cCg>cTg		sorting nexin 1							57.0	58.0	57.0					15																	64418402		2203	4300	6503	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64418402C>T	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.635C>T	15.37:g.64418402C>T	ENSP00000453785:p.Pro212Leu					SNX1_ENST00000261889.5_Missense_Mutation_p.P212L|SNX1_ENST00000559844.1_Missense_Mutation_p.P212L|SNX1_ENST00000561026.1_Missense_Mutation_p.P147L|SNX1_ENST00000560829.1_Intron	p.P212L			Q13596	SNX1_HUMAN			6	671	+			212			PX.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.635C>T	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969050	0.74131	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.79940	-1.32	6.16	6.16	0.99307	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.99740	4.74	0.80722	D	1	D;P;D;P;D;D	0.89917	0.965;0.842;0.987;0.626;1.0;0.987	P;P;P;B;D;P	0.78314	0.763;0.742;0.829;0.17;0.991;0.829	D	0.96742	0.9547	10	0.87932	D	0	-8.2647	19.848	0.96722	0.0:1.0:0.0:0.0	.	212;122;212;147;212;212	Q6ZRJ8;Q59GU6;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;SNX1_HUMAN	L	212;212;147	ENSP00000326668:P212L	ENSP00000261889:P147L	P	+	2	0	SNX1	62205455	1.000000	0.71417	0.462000	0.27118	0.153000	0.21895	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG		0.433	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		6	25	0	0	0	1	0	6	25				
NLGN4X	57502	broad.mit.edu	37	X	5821330	5821330	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:5821330G>A	ENST00000381095.3	-	5	2016	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y	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	463					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						TGGGGGAGCCGTACTGCGCGT	0.612																																						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.(1387-1389)taC>taT		neuroligin 4, X-linked							38.0	34.0	36.0					X																	5821330		2203	4296	6499	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:5821330G>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.1389C>T	X.37:g.5821330G>A						NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y|NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y	p.Y463Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2016	-			463					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1389C>T	CCDS14126.1																																																																																				0.612	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		7	17	0	0	0	1	0	7	17				
SLC25A53	401612	broad.mit.edu	37	X	103349894	103349894	+	Missense_Mutation	SNP	G	G	A	rs370922777		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:103349894G>A	ENST00000357421.4	-	2	227	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	16					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T16M(1)									CTCTGCTCGCGTCCTGTGCTG	0.522																																						ENST00000357421.4																			1	Substitution - Missense(1)	p.T16M(1)	kidney(1)								c.(46-48)aCg>aTg		solute carrier family 25, member 53			MET/THR	1,3832		0,1,1631,569	52.0	49.0	50.0		47	1.7	0.0	X		50	0,6728		0,0,2428,1872	no	missense	MCART6	NM_001012755.3	81	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	benign	16/308	103349894	1,10560	2201	4300	6501	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349894G>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.47C>T	X.37:g.103349894G>A	ENSP00000361681:p.Thr16Met						p.T16M	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	227	-			16					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.47C>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	0.445	-0.896553	0.02472	2.61E-4	0.0	ENSG00000176274	ENST00000357421	T	0.74842	-0.88	3.49	1.71	0.24356	.	0.910551	0.09193	N	0.835686	T	0.53449	0.1797	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.24006	0.05	T	0.41378	-0.9512	10	0.45353	T	0.12	-11.9024	5.2124	0.15325	0.2821:0.0:0.7179:0.0	.	16	Q5H9E4	MCAR6_HUMAN	M	16	ENSP00000361681:T16M	ENSP00000361681:T16M	T	-	2	0	MCART6	103236550	0.001000	0.12720	0.010000	0.14722	0.045000	0.14185	-0.095000	0.11077	0.330000	0.23485	-0.312000	0.09012	ACG		0.522	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		6	16	0	0	0	1	0	6	16				
ZNF700	90592	broad.mit.edu	37	19	12058329	12058329	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12058329G>A	ENST00000254321.5	+	3	334	c.191G>A	c.(190-192)gGa>gAa	p.G64E	ZNF700_ENST00000482090.1_Splice_Site_p.G46E|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	64	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)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTATTTTAGGAAAAAAATGG	0.368																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.e2-1		zinc finger protein 700							78.0	84.0	82.0					19																	12058329		2203	4300	6503	SO:0001630	splice_region_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12058329G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.191-1G>A	19.37:g.12058329G>A						ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Splice_Site_p.G64_splice	p.G46_splice			Q9H0M5	ZN700_HUMAN			2	555	+			64			KRAB.		B9EGU4	Splice_Site	SNP	ENST00000254321.5	37	c.136_splice	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	8.793	0.930978	0.18131	.	.	ENSG00000196757	ENST00000254321	T	0.02552	4.25	0.672	-0.742	0.11108	Krueppel-associated box (4);	.	.	.	.	T	0.07234	0.0183	L	0.56280	1.765	0.09310	N	1	D	0.69078	0.997	D	0.66847	0.947	T	0.30060	-0.9991	8	.	.	.	.	2.4897	0.04607	0.2615:0.3152:0.4233:0.0	.	64	Q9H0M5	ZN700_HUMAN	E	64	ENSP00000254321:G64E	.	G	+	2	0	ZNF700	11919329	0.000000	0.05858	0.002000	0.10522	0.143000	0.21401	0.006000	0.13152	-0.240000	0.09696	0.305000	0.20034	GGA		0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	Missense_Mutation	5	40	0	0	0	1	0	5	40				
BIRC6	57448	broad.mit.edu	37	2	32667453	32667453	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:32667453C>T	ENST00000421745.2	+	19	4302	c.4168C>T	c.(4168-4170)Cgt>Tgt	p.R1390C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1390					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)					AGACATCGTACGTGTTTGCTT	0.398																																					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.(4168-4170)Cgt>Tgt		baculoviral IAP repeat containing 6							128.0	121.0	123.0					2																	32667453		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32667453C>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.4168C>T	2.37:g.32667453C>T	ENSP00000393596:p.Arg1390Cys						p.R1390C	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			19	4302	+	Acute lymphoblastic leukemia(172;0.155)		1390					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4168C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529178	0.85706	.	.	ENSG00000115760	ENST00000421745	T	0.78126	-1.15	4.93	4.93	0.64822	.	0.069651	0.64402	D	0.000020	T	0.81489	0.4833	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	P	0.47603	0.551	D	0.85254	0.1046	10	0.87932	D	0	.	18.1639	0.89718	0.0:1.0:0.0:0.0	.	1390	Q9NR09	BIRC6_HUMAN	C	1390	ENSP00000393596:R1390C	ENSP00000393596:R1390C	R	+	1	0	BIRC6	32520957	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	2.775000	0.47702	2.270000	0.75569	0.650000	0.86243	CGT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	7	0	0	0	1	0	3	7				
KIAA1462	57608	broad.mit.edu	37	10	30315489	30315489	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:30315489C>T	ENST00000375377.1	-	3	3689	c.3588G>A	c.(3586-3588)ttG>ttA	p.L1196L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1196					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTTGGACTCCAAGGGGCTGG	0.547																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3586-3588)ttG>ttA		KIAA1462							148.0	145.0	146.0					10																	30315489		1891	4128	6019	SO:0001819	synonymous_variant	57608							g.chr10:30315489C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3588G>A	10.37:g.30315489C>T							p.L1196L	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3689	-			1196					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3588G>A	CCDS41500.1																																																																																				0.547	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		28	139	0	0	0	1	0	28	139				
SERPINB4	6318	broad.mit.edu	37	18	61305232	61305232	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:61305232C>T	ENST00000341074.5	-	8	1009	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB4_ENST00000356424.6_Silent_p.T246T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	298					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTTCTCAACGTGTCCTTGA	0.453																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(892-894)acG>acA		serpin peptidase inhibitor, clade B (ovalbumin), member 4							185.0	160.0	168.0					18																	61305232		2203	4300	6503	SO:0001819	synonymous_variant	6318							g.chr18:61305232C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.894G>A	18.37:g.61305232C>T						SERPINB4_ENST00000356424.6_Silent_p.T246T	p.T298T	NM_002974.2	NP_002965.1					8	1009	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.894G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	5.939	0.357213	0.11239	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	-9.03	0.00737	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14699	-1.0463	4	.	.	.	.	3.1776	0.06573	0.1342:0.1224:0.239:0.5045	.	.	.	.	H	279	.	.	R	-	2	0	SERPINB4	59456212	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-4.287000	0.00259	-2.264000	0.00689	-0.192000	0.12808	CGT		0.453	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		7	56	0	0	0	1	0	7	56				
SH3BP4	23677	broad.mit.edu	37	2	235951365	235951365	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:235951365G>A	ENST00000409212.1	+	4	2459	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R651H|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R651H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	651					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCAGGACCGCCCGGTGTCC	0.547																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1951-1953)cGc>cAc		SH3-domain binding protein 4							68.0	73.0	71.0					2																	235951365		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951365G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1952G>A	2.37:g.235951365G>A	ENSP00000386862:p.Arg651His					SH3BP4_ENST00000392011.2_Missense_Mutation_p.R651H|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R651H	p.R651H			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2459	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	651					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1952G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099655	0.76983	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.13657	2.57;2.57;2.57	5.15	5.15	0.70609	.	0.054086	0.85682	D	0.000000	T	0.26011	0.0634	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60173	0.87;0.87	T	0.01030	-1.1475	10	0.87932	D	0	-39.1322	17.1821	0.86858	0.0:0.0:1.0:0.0	.	651;651	A8K594;Q9P0V3	.;SH3B4_HUMAN	H	651	ENSP00000375867:R651H;ENSP00000386862:R651H;ENSP00000340237:R651H	ENSP00000340237:R651H	R	+	2	0	SH3BP4	235616104	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.615000	0.83006	2.397000	0.81536	0.655000	0.94253	CGC		0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			11	70	0	0	0	1	0	11	70				
ARHGEF19	128272	broad.mit.edu	37	1	16532526	16532526	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16532526C>T	ENST00000270747.3	-	8	1487	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	451	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCACACGCTGAAGCGC	0.647																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1351-1353)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 19							40.0	37.0	38.0					1																	16532526		2202	4299	6501	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532526C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1351G>A	1.37:g.16532526C>T	ENSP00000270747:p.Val451Met					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.V451M|ARHGEF19_ENST00000478117.1_5'UTR	p.V451M	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1487	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	451			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1351G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581997	0.86748	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	T;T;T	0.66995	-0.24;-0.24;-0.24	4.66	4.66	0.58398	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000011	D	0.84479	0.5481	M	0.89601	3.045	0.49582	D	0.999804	D	0.89917	1.0	D	0.97110	1.0	D	0.88171	0.2864	10	0.87932	D	0	.	15.048	0.71841	0.0:1.0:0.0:0.0	.	451	Q8IW93	ARHGJ_HUMAN	M	451;451;451;134	ENSP00000270747:V451M;ENSP00000396001:V451M;ENSP00000414370:V134M	ENSP00000270747:V451M	V	-	1	0	ARHGEF19	16405113	0.999000	0.42202	0.999000	0.59377	0.903000	0.53119	3.956000	0.56722	2.129000	0.65627	0.561000	0.74099	GTG		0.647	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	3	0	0	0	1	0	4	3				
MUTYH	4595	broad.mit.edu	37	1	45796900	45796900	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:45796900G>A	ENST00000372098.3	-	14	1554	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	MUTYH_ENST00000528332.2_Missense_Mutation_p.T158M|MUTYH_ENST00000528013.2_Missense_Mutation_p.T463M|MUTYH_ENST00000450313.1_Missense_Mutation_p.T477M|MUTYH_ENST00000372110.3_Missense_Mutation_p.T464M|MUTYH_ENST00000529984.1_Missense_Mutation_p.T144M|MUTYH_ENST00000354383.6_Missense_Mutation_p.T450M|MUTYH_ENST00000372104.1_Missense_Mutation_p.T449M|MUTYH_ENST00000488731.2_Missense_Mutation_p.T144M|MUTYH_ENST00000372100.5_Missense_Mutation_p.T460M|MUTYH_ENST00000456914.2_Missense_Mutation_p.T449M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.T463M|MUTYH_ENST00000355498.2_Missense_Mutation_p.T449M|MUTYH_ENST00000448481.1_Missense_Mutation_p.T460M			Q9UIF7	MUTYH_HUMAN	mutY homolog	474	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCTGCGTCAGCCAGCG	0.507			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1429-1431)aCg>aTg	Base excision repair (BER), DNA glycosylases	mutY homolog							106.0	106.0	106.0					1																	45796900		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45796900G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1421C>T	1.37:g.45796900G>A	ENSP00000361170:p.Thr474Met					MUTYH_ENST00000528332.2_Missense_Mutation_p.T158M|MUTYH_ENST00000372115.3_Missense_Mutation_p.T463M|MUTYH_ENST00000488731.2_Missense_Mutation_p.T144M|MUTYH_ENST00000372110.3_Missense_Mutation_p.T464M|MUTYH_ENST00000456914.2_Missense_Mutation_p.T449M|MUTYH_ENST00000355498.2_Missense_Mutation_p.T449M|MUTYH_ENST00000372098.3_Missense_Mutation_p.T474M|MUTYH_ENST00000372100.5_Missense_Mutation_p.T460M|MUTYH_ENST00000448481.1_Missense_Mutation_p.T460M|MUTYH_ENST00000354383.6_Missense_Mutation_p.T450M|MUTYH_ENST00000529984.1_Missense_Mutation_p.T144M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.T449M	p.T477M	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			14	1645	-	Acute lymphoblastic leukemia(166;0.155)		474		Missing (in CAPAR; dysfunctional in base excision repair assay).	Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1430C>T	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.723756|2.723756	0.48728|0.48728	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000529892|ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90385	.|-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.16|5.16	5.16|5.16	0.70880|0.70880	.|NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96175|0.96175	0.8753|0.8753	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|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	.|0.91635	.|0.999;0.991;0.981;0.996;0.981;0.991;0.991;0.991	D|D	0.96787|0.96787	0.9579|0.9579	5|10	.|0.72032	.|D	.|0.01	-23.5468|-23.5468	18.6575|18.6575	0.91459|0.91459	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;477;474;464;474;463;357;450	.|B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.|.;.;.;.;MUTYH_HUMAN;.;.;.	C|M	141|144;158;449;460;449;450;449;474;464;463;144;477;460	.|ENSP00000437093:T144M;ENSP00000433076:T158M;ENSP00000361176:T449M;ENSP00000409718:T460M;ENSP00000407590:T449M;ENSP00000346354:T450M;ENSP00000347685:T449M;ENSP00000361170:T474M;ENSP00000361182:T464M;ENSP00000361187:T463M;ENSP00000432330:T144M;ENSP00000408176:T477M;ENSP00000361172:T460M	.|ENSP00000346354:T450M	R|T	-|-	1|2	0|0	MUTYH|MUTYH	45569487|45569487	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.122000|0.122000	0.20287|0.20287	8.908000|8.908000	0.92640|0.92640	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.507	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		13	62	0	0	0	1	0	13	62				
MAGEA6	4105	broad.mit.edu	37	X	151869697	151869697	+	Silent	SNP	G	G	A	rs144510184		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:151869697G>A	ENST00000329342.5	+	3	612	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	129	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(385-387)ccG>ccA		melanoma antigen family A, 6							129.0	122.0	124.0					X																	151869697		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869697G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.387G>A	X.37:g.151869697G>A							p.P129P	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	612	+	Acute lymphoblastic leukemia(192;6.56e-05)		129			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.387G>A	CCDS14708.1																																																																																				0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		21	140	0	0	0	1	0	21	140				
TMEM201	199953	broad.mit.edu	37	1	9662288	9662288	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:9662288C>T	ENST00000340381.6	+	6	1127	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	TMEM201_ENST00000377376.4_Missense_Mutation_p.A373V|TMEM201_ENST00000340305.5_Missense_Mutation_p.A373V	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	373					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)		GCGGCTGTGGCCACAAGGAAG	0.647																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(1117-1119)gCc>gTc		transmembrane protein 201							30.0	27.0	28.0					1																	9662288		2203	4300	6503	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9662288C>T		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.1118C>T	1.37:g.9662288C>T	ENSP00000344503:p.Ala373Val					TMEM201_ENST00000340381.6_Missense_Mutation_p.A373V|TMEM201_ENST00000377376.4_Missense_Mutation_p.A373V	p.A373V	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	1127	+	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)	373					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.1118C>T	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	c	26.2	4.712240	0.89112	.	.	ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381	.	.	.	4.75	3.82	0.43975	.	0.140114	0.47455	D	0.000224	T	0.62429	0.2427	L	0.36672	1.1	0.49389	D	0.999784	D;P	0.64830	0.994;0.802	P;P	0.62491	0.903;0.542	T	0.62567	-0.6827	9	0.51188	T	0.08	-9.7485	11.7745	0.51977	0.1758:0.8242:0.0:0.0	.	373;373	E9PBR6;Q5SNT2-2	.;.	V	373	.	ENSP00000344772:A373V	A	+	2	0	TMEM201	9584875	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.173000	0.65010	0.990000	0.38787	0.457000	0.33378	GCC		0.647	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		5	34	0	0	0	1	0	5	34				
SLC6A17	388662	broad.mit.edu	37	1	110738255	110738255	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:110738255C>T	ENST00000331565.4	+	10	2025	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	514					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.F511_R514del(1)|p.R514C(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGTCCAGCGCTCCGGAAA	0.582																																						ENST00000331565.4																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.F511_R514del(1)|p.R514C(1)	ovary(1)|breast(1)	breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1540-1542)Cgc>Tgc		solute carrier family 6 (neutral amino acid transporter), member 17							106.0	90.0	95.0					1																	110738255		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738255C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1540C>T	1.37:g.110738255C>T	ENSP00000330199:p.Arg514Cys						p.R514C	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	2025	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	514					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1540C>T	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969643	0.92855	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75367	-0.93	5.65	5.65	0.86999	.	0.051032	0.85682	D	0.000000	D	0.86879	0.6039	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87761	0.2598	10	0.66056	D	0.02	.	19.6999	0.96048	0.0:1.0:0.0:0.0	.	514	Q9H1V8	S6A17_HUMAN	C	514	ENSP00000330199:R514C	ENSP00000330199:R514C	R	+	1	0	SLC6A17	110539778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.922000	0.70036	2.657000	0.90304	0.655000	0.94253	CGC		0.582	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		8	52	0	0	0	1	0	8	52				
UBN1	29855	broad.mit.edu	37	16	4910928	4910928	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4910928C>T	ENST00000396658.4	+	6	1638	c.935C>T	c.(934-936)aCg>aTg	p.T312M	UBN1_ENST00000545171.1_Missense_Mutation_p.T312M|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.T312M|UBN1_ENST00000262376.6_Missense_Mutation_p.T312M	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	312					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GACTCGCTGACGGATTTGGAC	0.562																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(934-936)aCg>aTg		ubinuclein 1							124.0	107.0	113.0					16																	4910928		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910928C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.935C>T	16.37:g.4910928C>T	ENSP00000379894:p.Thr312Met					UBN1_ENST00000262376.6_Missense_Mutation_p.T312M|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Missense_Mutation_p.T312M|UBN1_ENST00000590769.1_Missense_Mutation_p.T312M	p.T312M	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1638	+			312					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.935C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793827	0.50102	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46063	1.47;0.88;1.47	5.77	3.67	0.42095	.	0.134840	0.51477	D	0.000083	T	0.47581	0.1453	L	0.36672	1.1	0.29212	N	0.874496	D;D	0.64830	0.994;0.99	P;P	0.54499	0.754;0.572	T	0.50466	-0.8825	10	0.48119	T	0.1	-13.6455	17.2894	0.87150	0.0:0.56:0.44:0.0	.	312;312	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	M	312	ENSP00000262376:T312M;ENSP00000442379:T312M;ENSP00000379894:T312M	ENSP00000262376:T312M	T	+	2	0	UBN1	4850929	0.395000	0.25254	0.960000	0.40013	0.984000	0.73092	0.820000	0.27323	1.555000	0.49500	0.655000	0.94253	ACG		0.562	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		13	60	0	0	0	1	0	13	60				
TRAV36DV7	28646	broad.mit.edu	37	14	22694893	22694893	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:22694893C>T	ENST00000390463.3	+	0	100									T cell receptor alpha variable 36/delta variable 7																		TGGTACAAAGCCCTCTATCTC	0.453																																						ENST00000390463.3																			0																				78.0	78.0	78.0					14																	22694893		1873	4103	5976			0							g.chr14:22694893C>T	AE000660		14q11.2	2012-02-07			ENSG00000211815	ENSG00000211815		"""T cell receptors / TRA locus"""	12135	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV36/DV7			OTTHUMG00000170666		14.37:g.22694893C>T														0	100	+									RNA	SNP	ENST00000390463.3	37																																																																																						0.453	TRAV36DV7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409914.1	NG_001332		7	50	0	0	0	1	0	7	50				
RIC1	57589	broad.mit.edu	37	9	5743014	5743014	+	Splice_Site	SNP	G	G	A	rs370606357		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:5743014G>A	ENST00000414202.2	+	9	1237		c.e9+1		KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000381532.2_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGATTTTGCGTAAGTCAAAA	0.373																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.e9+1		KIAA1432							133.0	131.0	132.0					9																	5743014		2203	4300	6503	SO:0001630	splice_region_variant	57589					integral to membrane		g.chr9:5743014G>A																												ENST00000414202.2:c.1046+1G>A	9.37:g.5743014G>A						KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site		NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	9	1237	+		Acute lymphoblastic leukemia(23;0.154)							Splice_Site	SNP	ENST00000414202.2	37		CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714597	0.89112	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000545641;ENST00000449720	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1432	5733014	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.342000	0.97044	2.941000	0.99782	0.655000	0.94253	.		0.373	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		Intron	7	24	0	0	0	1	0	7	24				
BOD1L1	259282	broad.mit.edu	37	4	13603650	13603650	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:13603650T>A	ENST00000040738.5	-	10	5009	c.4874A>T	c.(4873-4875)gAc>gTc	p.D1625V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1625						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCTGCTCTGTCCTCAGATTC	0.502																																						ENST00000040738.5																			0											c.(4873-4875)gAc>gTc		biorientation of chromosomes in cell division 1-like 1							124.0	124.0	124.0					4																	13603650		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603650T>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4874A>T	4.37:g.13603650T>A	ENSP00000040738:p.Asp1625Val						p.D1625V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5009	-			1625					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4874A>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482331	0.26598	.	.	ENSG00000038219	ENST00000040738	T	0.09630	2.96	4.41	1.95	0.26073	.	0.425370	0.21067	N	0.080740	T	0.07954	0.0199	N	0.24115	0.695	0.37755	D	0.9261	P	0.48911	0.917	B	0.43478	0.421	T	0.28170	-1.0052	10	0.72032	D	0.01	-2.2331	7.6149	0.28152	0.0:0.2589:0.0:0.7411	.	1625	Q8NFC6	BOD1L_HUMAN	V	1625	ENSP00000040738:D1625V	ENSP00000040738:D1625V	D	-	2	0	BOD1L	13212748	0.848000	0.29623	0.047000	0.18901	0.238000	0.25445	0.850000	0.27737	0.323000	0.23307	0.528000	0.53228	GAC		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		12	83	0	0	0	1	0	12	83				
ADAMTS18	170692	broad.mit.edu	37	16	77401347	77401347	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:77401347G>A	ENST00000282849.5	-	4	1187	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	ADAMTS18_ENST00000567121.1_5'Flank	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	257					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						CATTTCTTGCGTCGTCCACAA	0.443																																						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.(769-771)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							78.0	77.0	77.0					16																	77401347		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401347G>A	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.769C>T	16.37:g.77401347G>A	ENSP00000282849:p.Arg257Cys						p.R257C	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	1187	-			257					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.769C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438715	0.83885	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.61742	0.08;2.07	4.99	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79690	-0.1698	10	0.87932	D	0	.	14.3429	0.66641	0.0:0.1491:0.8509:0.0	.	257	Q8TE60	ATS18_HUMAN	C	257	ENSP00000282849:R257C;ENSP00000392540:R257C	ENSP00000282849:R257C	R	-	1	0	ADAMTS18	75958848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.039000	0.70972	1.276000	0.44395	0.555000	0.69702	CGC		0.443	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	43	0	0	0	1	0	7	43				
RPAP1	26015	broad.mit.edu	37	15	41813295	41813295	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:41813295G>A	ENST00000304330.4	-	22	3205	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1030	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTCCTAACGACAGCTGGTC	0.587																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(3088-3090)tCg>tTg		RNA polymerase II associated protein 1							45.0	49.0	48.0					15																	41813295		2203	4298	6501	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813295G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3089C>T	15.37:g.41813295G>A	ENSP00000306123:p.Ser1030Leu					RPAP1_ENST00000561603.1_Intron	p.S1030L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3205	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1030			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.3089C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005112	0.19199	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.79	2.76	0.32466	.	0.460537	0.23815	N	0.044293	T	0.60586	0.2280	L	0.44542	1.39	0.09310	N	1	B	0.31837	0.342	B	0.17098	0.017	T	0.58358	-0.7650	10	0.87932	D	0	-14.0921	8.2023	0.31432	0.0:0.1441:0.6572:0.1987	.	1030	Q9BWH6	RPAP1_HUMAN	L	1030	ENSP00000306123:S1030L	ENSP00000306123:S1030L	S	-	2	0	RPAP1	39600587	1.000000	0.71417	0.688000	0.30117	0.447000	0.32167	3.229000	0.51278	1.218000	0.43458	0.557000	0.71058	TCG		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		11	67	0	0	0	1	0	11	67				
GRAMD2	196996	broad.mit.edu	37	15	72455746	72455746	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:72455746C>T	ENST00000309731.7	-	10	830	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	273						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTAGGGCAGGCAGGACCCCAG	0.532																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(817-819)Gcc>Acc		GRAM domain containing 2							103.0	106.0	105.0					15																	72455746		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455746C>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.817G>A	15.37:g.72455746C>T	ENSP00000311657:p.Ala273Thr					GRAMD2_ENST00000564184.1_5'UTR	p.A273T	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	830	-			273					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.817G>A	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687219	0.14973	.	.	ENSG00000175318	ENST00000309731	T	0.30448	1.53	3.42	-0.417	0.12347	.	2.607290	0.01651	N	0.024581	T	0.18299	0.0439	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.10917	-1.0609	10	0.11794	T	0.64	.	6.9702	0.24644	0.5901:0.2726:0.1373:0.0	.	273	Q8IUY3	GRAM2_HUMAN	T	273	ENSP00000311657:A273T	ENSP00000311657:A273T	A	-	1	0	GRAMD2	70242800	0.000000	0.05858	0.000000	0.03702	0.302000	0.27658	0.015000	0.13355	-0.065000	0.13021	0.591000	0.81541	GCC		0.532	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		5	81	0	0	0	1	0	5	81				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	28	0	0	0	1	0	4	28				
PADI2	11240	broad.mit.edu	37	1	17418973	17418973	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:17418973G>A	ENST00000375486.4	-	6	648	c.585C>T	c.(583-585)ccC>ccT	p.P195P	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.P195P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	195					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.P195Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTATCCGGCGGGGAGGCGGT	0.537																																						ENST00000375486.4																			1	Substitution - Missense(1)	p.P195Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(583-585)ccC>ccT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						92.0	83.0	86.0					1																	17418973		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17418973G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.585C>T	1.37:g.17418973G>A						PADI2_ENST00000375481.1_Silent_p.P195P|PADI2_ENST00000444885.2_Intron	p.P195P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	6	648	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	195					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.585C>T	CCDS177.1																																																																																				0.537	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			9	44	0	0	0	1	0	9	44				
BTBD7	55727	broad.mit.edu	37	14	93708993	93708993	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:93708993A>G	ENST00000334746.5	-	11	3332	c.3025T>C	c.(3025-3027)Tat>Cat	p.Y1009H	BTBD7_ENST00000554565.1_Missense_Mutation_p.Y658H|BTBD7_ENST00000393170.2_Missense_Mutation_p.Y583H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1009					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAAGTGGATATTCTCTCCTA	0.498																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(3025-3027)Tat>Cat		BTB (POZ) domain containing 7							152.0	143.0	146.0					14																	93708993		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93708993A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3025T>C	14.37:g.93708993A>G	ENSP00000335615:p.Tyr1009His					BTBD7_ENST00000554565.1_Missense_Mutation_p.Y658H|BTBD7_ENST00000393170.2_Missense_Mutation_p.Y583H	p.Y1009H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3332	-		all_cancers(154;0.08)	1009					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.3025T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373827	0.42105	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.51574	1.03;0.7	6.05	0.958	0.19619	.	0.254343	0.34507	N	0.003909	T	0.29749	0.0743	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22480	0.003;0.001;0.07	B;B;B	0.28011	0.011;0.002;0.085	T	0.20538	-1.0272	10	0.56958	D	0.05	.	6.5823	0.22602	0.6939:0.1186:0.1875:0.0	.	583;658;1009	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	H	1009;658;624;583	ENSP00000335615:Y1009H;ENSP00000451010:Y658H	ENSP00000335615:Y1009H	Y	-	1	0	BTBD7	92778746	0.040000	0.19996	0.000000	0.03702	0.994000	0.84299	0.941000	0.29005	-0.064000	0.13043	0.533000	0.62120	TAT		0.498	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		19	92	0	0	0	1	0	19	92				
ASL	435	broad.mit.edu	37	7	65553837	65553837	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:65553837C>T	ENST00000304874.9	+	11	864	c.762C>T	c.(760-762)agC>agT	p.S254S	ASL_ENST00000380839.4_Silent_p.S228S|ASL_ENST00000395332.3_Silent_p.S254S|ASL_ENST00000395331.3_Silent_p.S254S|AC068533.7_ENST00000450043.1_Nonsense_Mutation_p.Q23*	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	254					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCATCTCAGCAGGATGGCCG	0.582																																						ENST00000450043.1																			0						GRCh37	CM022319	ASL	M		c.(67-69)Cag>Tag									93.0	70.0	78.0					7																	65553837		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr7:65553837C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.762C>T	7.37:g.65553837C>T						ASL_ENST00000395332.3_Silent_p.S254S|ASL_ENST00000395331.3_Silent_p.S254S|ASL_ENST00000304874.9_Silent_p.S254S|ASL_ENST00000380839.4_Silent_p.S228S	p.Q23*							2	67	+								E7EMI0|E9PE48|Q6LDS5|Q96HS2	Nonsense_Mutation	SNP	ENST00000304874.9	37	c.67C>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.465067	0.26335	.	.	ENSG00000249319	ENST00000450043	.	.	.	5.82	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6925	0.45879	0.0:0.8544:0.0:0.1456	.	.	.	.	X	23	.	.	Q	+	1	0	AC068533.7	65191272	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.998000	0.40796	2.756000	0.94617	0.561000	0.74099	CAG		0.582	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		9	24	0	0	0	1	0	9	24				
NOXO1	124056	broad.mit.edu	37	16	2030958	2030958	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:2030958G>A	ENST00000397280.4	-	2	132	c.129C>T	c.(127-129)gaC>gaT	p.D43D	NOXO1_ENST00000566005.1_Silent_p.D43D|NOXO1_ENST00000356120.4_Silent_p.D43D|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_Silent_p.D43D|TBL3_ENST00000568546.1_3'UTR			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	43	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	GCCTGAATTCGTCCCAACTCC	0.642																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	ENST00000354249.4																			0				lung(2)	2						c.(127-129)gaC>gaT		NADPH oxidase organizer 1							39.0	39.0	39.0					16																	2030958		2197	4300	6497	SO:0001819	synonymous_variant	0				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2030958G>A	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.129C>T	16.37:g.2030958G>A						NOXO1_ENST00000356120.4_Silent_p.D43D|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Silent_p.D43D|NOXO1_ENST00000397280.4_Silent_p.D43D	p.D43D	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN			2	498	-			43			PX.		Q86YM1|Q8NFA3|Q96B73	Silent	SNP	ENST00000397280.4	37	c.129C>T	CCDS42101.1																																																																																				0.642	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			12	36	0	0	0	1	0	12	36				
MBTPS1	8720	broad.mit.edu	37	16	84104352	84104352	+	Silent	SNP	G	G	A	rs141003439		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84104352G>A	ENST00000343411.3	-	13	2118	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	541					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTGTCTCCGTTCTGTGGCA	0.493																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1621-1623)aaC>aaT		membrane-bound transcription factor peptidase, site 1		G		0,4400		0,0,2200	72.0	63.0	66.0		1623	-4.2	0.9	16	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MBTPS1	NM_003791.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		541/1053	84104352	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104352G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1623C>T	16.37:g.84104352G>A						MBTPS1_ENST00000569770.1_5'UTR	p.N541N	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			13	2118	-			541					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1623C>T	CCDS10941.1																																																																																				0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		13	53	0	0	0	1	0	13	53				
PITRM1	10531	broad.mit.edu	37	10	3180260	3180260	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:3180260G>A	ENST00000224949.4	-	27	3111	c.3077C>T	c.(3076-3078)cCg>cTg	p.P1026L	PITRM1_ENST00000380989.2_Missense_Mutation_p.P1027L|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1026					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGCAATTTTCGGGTTCTCGGG	0.582																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(3079-3081)cCg>cTg		pitrilysin metallopeptidase 1							58.0	61.0	60.0					10																	3180260		2063	4207	6270	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3180260G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3077C>T	10.37:g.3180260G>A	ENSP00000224949:p.Pro1026Leu					PITRM1_ENST00000224949.4_Missense_Mutation_p.P1026L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928L|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584L	p.P1027L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			27	3118	-			928					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.3080C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	4.946	0.175685	0.09391	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.83	1.28	0.21552	.	0.743369	0.13981	N	0.349450	T	0.21427	0.0516	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13594	0.008;0.003;0.001	B;B;B	0.08055	0.001;0.003;0.0	T	0.17137	-1.0379	10	0.30078	T	0.28	-2.4062	7.0374	0.25000	0.1462:0.0:0.609:0.2448	.	928;1026;961	E7ES23;Q5JRX3;E9PDX7	.;PREP_HUMAN;.	L	1026;1019;1027;584;928	ENSP00000224949:P1026L;ENSP00000370377:P1027L;ENSP00000370382:P584L;ENSP00000401201:P928L	ENSP00000224949:P1026L	P	-	2	0	PITRM1	3170260	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.004000	0.29822	0.357000	0.24183	0.561000	0.74099	CCG		0.582	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			4	18	0	0	0	1	0	4	18				
CLDN15	24146	broad.mit.edu	37	7	100880655	100880655	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100880655C>T	ENST00000401528.1	-	2	1333	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CLDN15_ENST00000308344.5_Missense_Mutation_p.A70T|FIS1_ENST00000482199.1_5'Flank|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	70					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGAGAGGGCCAGCATGGAC	0.637																																						ENST00000401528.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(208-210)Gcc>Acc		claudin 15							79.0	58.0	65.0					7																	100880655		2203	4299	6502	SO:0001583	missense	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880655C>T	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.208G>A	7.37:g.100880655C>T	ENSP00000385300:p.Ala70Thr					CLDN15_ENST00000308344.5_Missense_Mutation_p.A70T|CLDN15_ENST00000433422.1_5'UTR	p.A70T	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN			2	1333	-	Lung NSC(181;0.168)|all_lung(186;0.215)		70					B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	c.208G>A	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918778	0.92249	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;D;D	0.89196	-2.48;-2.48;-2.41;-2.48	4.73	4.73	0.59995	.	0.168980	0.51477	D	0.000090	D	0.94791	0.8318	M	0.87758	2.905	0.54753	D	0.999985	D;D	0.76494	0.999;0.992	D;D	0.74348	0.983;0.946	D	0.95540	0.8611	10	0.72032	D	0.01	.	15.5526	0.76164	0.0:1.0:0.0:0.0	.	70;70	Q96FX9;P56746	.;CLD15_HUMAN	T	70	ENSP00000308870:A70T;ENSP00000385300:A70T;ENSP00000398418:A70T;ENSP00000390230:A70T	ENSP00000308870:A70T	A	-	1	0	CLDN15	100667375	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.406000	0.80017	2.336000	0.79503	0.655000	0.94253	GCC		0.637	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		3	16	0	0	0	1	0	3	16				
PSMD4	5710	broad.mit.edu	37	1	151234660	151234660	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151234660G>A	ENST00000368884.3	+	2	130	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	PSMD4_ENST00000368881.4_Missense_Mutation_p.R17Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	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)			GAGTATATGCGGAATGGAGAC	0.493																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(49-51)cGg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4							109.0	100.0	103.0					1																	151234660		2203	4300	6503	SO:0001583	missense	5710				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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151234660G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.50G>A	1.37:g.151234660G>A	ENSP00000357879:p.Arg17Gln					PSMD4_ENST00000368881.4_Missense_Mutation_p.R17Q	p.R17Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	130	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		17			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.50G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306186	0.95629	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.14022	2.54;2.54;2.54	4.35	4.35	0.52113	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000019	T	0.36468	0.0968	M	0.92604	3.325	0.52501	D	0.999958	D;D	0.71674	0.998;0.994	D;D	0.71414	0.973;0.973	T	0.46555	-0.9183	10	0.54805	T	0.06	-9.4261	13.9142	0.63887	0.0:0.0:1.0:0.0	.	17;17	Q5VWC4;P55036	.;PSMD4_HUMAN	Q	17;17;2	ENSP00000357879:R17Q;ENSP00000357876:R17Q;ENSP00000414499:R2Q	ENSP00000357876:R17Q	R	+	2	0	PSMD4	149501284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.991000	0.93514	2.256000	0.74724	0.484000	0.47621	CGG		0.493	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		12	66	0	0	0	1	0	12	66				
MBD1	4152	broad.mit.edu	37	18	47799780	47799780	+	Missense_Mutation	SNP	G	G	A	rs555450900		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47799780G>A	ENST00000591416.1	-	13	1939	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MBD1_ENST00000269468.5_Missense_Mutation_p.A503V|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.A554V|MBD1_ENST00000585672.1_Missense_Mutation_p.A453V|MBD1_ENST00000398495.2_Missense_Mutation_p.A472V|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Missense_Mutation_p.A503V|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.A503V|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.A447V|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.A528V|MBD1_ENST00000457839.2_Missense_Mutation_p.A528V|MBD1_ENST00000353909.3_Missense_Mutation_p.A454V|MBD1_ENST00000347968.3_Missense_Mutation_p.A447V			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	503					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGTATCCGCCTTCTCTTG	0.602																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1507-1509)gCg>gTg		methyl-CpG binding domain protein 1							130.0	102.0	111.0					18																	47799780		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799780G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1508C>T	18.37:g.47799780G>A	ENSP00000467017:p.Ala503Val					MBD1_ENST00000457839.2_Missense_Mutation_p.A528V|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.A554V|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.A447V|MBD1_ENST00000398495.2_Missense_Mutation_p.A472V|MBD1_ENST00000382948.5_Missense_Mutation_p.A503V|MBD1_ENST00000353909.3_Missense_Mutation_p.A454V|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000347968.3_Missense_Mutation_p.A447V|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.A503V|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Missense_Mutation_p.A453V|MBD1_ENST00000590208.1_Missense_Mutation_p.A503V|MBD1_ENST00000585595.1_Missense_Mutation_p.A528V	p.A503V			Q9UIS9	MBD1_HUMAN			13	1939	-			503					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1508C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343769	0.24339	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000347968;ENST00000424334;ENST00000398495;ENST00000457839;ENST00000398493	D;D;D;D;D;D;D	0.96830	-4.04;-4.05;-4.04;-4.14;-4.07;-4.04;-4.14	4.91	-0.44	0.12261	.	0.803409	0.11239	N	0.584811	D	0.91673	0.7368	L	0.32530	0.975	0.20638	N	0.999871	B;B;B;B;B	0.19200	0.009;0.034;0.024;0.027;0.024	B;B;B;B;B	0.19148	0.002;0.024;0.004;0.017;0.004	T	0.82448	-0.0452	10	0.40728	T	0.16	0.7783	8.2161	0.31511	0.4961:0.0:0.5039:0.0	.	554;454;503;447;528	B4DI41;Q9UIS9-5;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;MBD1_HUMAN;.;.	V	503;454;503;447;554;503;528;447	ENSP00000372407:A503V;ENSP00000269469:A454V;ENSP00000269468:A503V;ENSP00000285102:A447V;ENSP00000408846:A554V;ENSP00000405268:A528V;ENSP00000381506:A447V	ENSP00000269468:A503V	A	-	2	0	MBD1	46053778	0.165000	0.22948	0.107000	0.21349	0.979000	0.70002	0.021000	0.13489	-0.185000	0.10550	0.561000	0.74099	GCG		0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		11	50	0	0	0	1	0	11	50				
LRRC10	376132	broad.mit.edu	37	12	70004150	70004150	+	Missense_Mutation	SNP	G	G	A	rs201257055		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70004150G>A	ENST00000361484.3	-	1	792	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	157					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)			GGCAGCAAACGCAGGGCGTTG	0.627																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(469-471)Cgt>Tgt		leucine rich repeat containing 10							45.0	46.0	45.0					12																	70004150		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004150G>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.469C>T	12.37:g.70004150G>A	ENSP00000355166:p.Arg157Cys						p.R157C	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	792	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		157					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.469C>T	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.752932	0.69648	.	.	ENSG00000198812	ENST00000361484	T	0.25414	1.8	5.62	4.73	0.59995	.	0.201056	0.53938	N	0.000047	T	0.30417	0.0764	M	0.71036	2.16	0.58432	D	0.999994	B	0.20988	0.05	B	0.15052	0.012	T	0.07271	-1.0781	10	0.41790	T	0.15	.	14.5997	0.68432	0.07:0.0:0.93:0.0	.	157	Q5BKY1	LRC10_HUMAN	C	157	ENSP00000355166:R157C	ENSP00000355166:R157C	R	-	1	0	LRRC10	68290417	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	3.988000	0.56951	1.518000	0.48934	0.555000	0.69702	CGT		0.627	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		8	42	0	0	0	1	0	8	42				
GPR125	166647	broad.mit.edu	37	4	22390048	22390048	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22390048C>T	ENST00000334304.5	-	19	3515	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1082					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCTCCATTCGTCCCATTAG	0.502																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3244-3246)acG>acA		G protein-coupled receptor 125							64.0	54.0	58.0					4																	22390048		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390048C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3246G>A	4.37:g.22390048C>T						GPR125_ENST00000282943.5_5'UTR	p.T1082T	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3515	-		Breast(46;0.198)	1082					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3246G>A	CCDS33964.1																																																																																				0.502	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	30	0	0	0	1	0	5	30				
CACNA1A	773	broad.mit.edu	37	19	13423524	13423524	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:13423524G>A	ENST00000360228.5	-	12	1626	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTAAGGCCGCGTCCCAAGC	0.438																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1627-1629)Cgg>Tgg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						97.0	93.0	94.0					19																	13423524		1889	4101	5990	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423524G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1627C>T	19.37:g.13423524G>A	ENSP00000353362:p.Arg543Trp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	p.R543W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1626	-			544					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1627C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446437	0.43429	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97850	-4.57	5.11	2.72	0.32119	Ion transport (1);	0.077242	0.49916	D	0.000135	D	0.98021	0.9348	M	0.75085	2.285	0.36727	D	0.881496	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.965;0.999;0.997	D	0.98789	1.0735	10	0.72032	D	0.01	.	7.6682	0.28443	0.0896:0.0:0.66:0.2504	.	544;544;543	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	W	543;544;544;544	ENSP00000353362:R543W	ENSP00000317661:R544W	R	-	1	2	CACNA1A	13284524	0.993000	0.37304	1.000000	0.80357	0.972000	0.66771	1.879000	0.39618	1.285000	0.44548	-0.142000	0.14014	CGG		0.438	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	45	0	0	0	1	0	9	45				
TRIT1	54802	broad.mit.edu	37	1	40319624	40319624	+	Intron	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40319624C>T	ENST00000316891.5	-	3	429				TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000544981.1_Silent_p.S144S|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537440.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1						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)			CAGTGAGTTACGAGTGAACTA	0.388																																						ENST00000544981.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(430-432)tcG>tcA		tRNA isopentenyltransferase 1							89.0	84.0	86.0					1																	40319624		2202	4300	6502	SO:0001627	intron_variant	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40319624C>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.414+17G>A	1.37:g.40319624C>T						TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000316891.5_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron	p.S144S			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)		3	444	-	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)	0					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	c.432G>A	CCDS30681.1																																																																																				0.388	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		5	17	0	0	0	1	0	5	17				
CACNG8	59283	broad.mit.edu	37	19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:54466610G>A	ENST00000270458.2	+	1	317	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	72					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(214-216)Ggc>Agc		calcium channel, voltage-dependent, gamma subunit 8							11.0	13.0	12.0					19																	54466610		2177	4264	6441	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466610G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.214G>A	19.37:g.54466610G>A	ENSP00000270458:p.Gly72Ser						p.G72S	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	317	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		72					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.214G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207920	0.22205	.	.	ENSG00000142408	ENST00000270458	T	0.41400	1.0	2.92	0.68	0.17980	.	0.533778	0.16207	U	0.224671	T	0.20700	0.0498	N	0.14661	0.345	0.22424	N	0.999111	B	0.06786	0.001	B	0.10450	0.005	T	0.16100	-1.0414	9	0.25106	T	0.35	0.3108	5.3196	0.15874	0.4086:0.0:0.5914:0.0	.	72	Q8WXS5	CCG8_HUMAN	S	72	ENSP00000270458:G72S	ENSP00000270458:G72S	G	+	1	0	CACNG8	59158422	0.046000	0.20272	0.011000	0.14972	0.288000	0.27193	2.115000	0.41921	0.123000	0.18342	0.297000	0.19635	GGC		0.726	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			4	21	0	0	0	1	0	4	21				
SLC8A3	6547	broad.mit.edu	37	14	70634985	70634985	+	Missense_Mutation	SNP	G	G	A	rs368848410		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70634985G>A	ENST00000381269.2	-	2	908	c.155C>T	c.(154-156)tCg>tTg	p.S52L	SLC8A3_ENST00000356921.2_Missense_Mutation_p.S52L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S52L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S52L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	52					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGCAGTCCGATGACCCTGA	0.547																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(154-156)tCg>tTg		solute carrier family 8 (sodium/calcium exchanger), member 3		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	74.0	61.0	65.0		155,155,155,155	4.8	1.0	14		65	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	145,145,145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign	52/926,52/925,52/922,52/928	70634985	2,13004	2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634985G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.155C>T	14.37:g.70634985G>A	ENSP00000370669:p.Ser52Leu					SLC8A3_ENST00000356921.2_Missense_Mutation_p.S52L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S52L	p.S52L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	908	-			52					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.155C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	6.301	0.423706	0.11928	0.0	2.33E-4	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35421	1.38;1.31;1.45;1.38;1.45	4.84	4.84	0.62591	.	0.243896	0.34435	N	0.003974	T	0.19685	0.0473	L	0.27053	0.805	0.37437	D	0.914251	B;B;B;B	0.32071	0.355;0.242;0.019;0.205	B;B;B;B	0.23716	0.048;0.013;0.004;0.009	T	0.13202	-1.0518	10	0.19147	T	0.46	.	7.1739	0.25734	0.0922:0.0:0.7355:0.1723	.	52;52;52;52	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	L	52	ENSP00000349392:S52L;ENSP00000370669:S52L;ENSP00000350560:S52L;ENSP00000436688:S52L;ENSP00000433531:S52L	ENSP00000349392:S52L	S	-	2	0	SLC8A3	69704738	0.995000	0.38212	0.982000	0.44146	0.993000	0.82548	2.458000	0.45014	2.509000	0.84616	0.563000	0.77884	TCG		0.547	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			6	34	0	0	0	1	0	6	34				
TANC1	85461	broad.mit.edu	37	2	160080827	160080827	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:160080827C>T	ENST00000263635.6	+	23	4000	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1149W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1255					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						CATCGGCTGCCGGAACACATC	0.597																																						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.(3763-3765)Cgg>Tgg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							47.0	57.0	54.0					2																	160080827		2120	4229	6349	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160080827C>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.3763C>T	2.37:g.160080827C>T	ENSP00000263635:p.Arg1255Trp					TANC1_ENST00000454300.1_Missense_Mutation_p.R1149W	p.R1255W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			23	4000	+			1255					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3763C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169121	0.57584	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.65732	-0.17;2.37	5.08	4.14	0.48551	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.73319	2.225	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	T	0.80248	-0.1461	10	0.87932	D	0	.	14.2878	0.66256	0.1493:0.8507:0.0:0.0	.	1247;1149;1255	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	W	1149;1255	ENSP00000396339:R1149W;ENSP00000263635:R1255W	ENSP00000263635:R1255W	R	+	1	2	TANC1	159789073	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.912000	0.39946	2.359000	0.80004	0.563000	0.77884	CGG		0.597	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	51	0	0	0	1	0	4	51				
GPR149	344758	broad.mit.edu	37	3	154147110	154147110	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:154147110C>T	ENST00000389740.2	-	1	394	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	99					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAAGTAACCGGGGACCTCG	0.488																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(295-297)Ggt>Agt		G protein-coupled receptor 149							86.0	91.0	90.0					3																	154147110		2017	4171	6188	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147110C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.295G>A	3.37:g.154147110C>T	ENSP00000374390:p.Gly99Ser						p.G99S	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	394	-			99						Missense_Mutation	SNP	ENST00000389740.2	37	c.295G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312992	0.23908	.	.	ENSG00000174948	ENST00000389740	T	0.35605	1.3	5.91	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.595287	0.15939	N	0.237279	T	0.23886	0.0578	N	0.14661	0.345	0.09310	N	1	P	0.46578	0.88	B	0.41894	0.369	T	0.07927	-1.0747	10	0.41790	T	0.15	-5.048	11.4913	0.50383	0.0:0.9156:0.0:0.0844	.	99	Q86SP6	GP149_HUMAN	S	99	ENSP00000374390:G99S	ENSP00000374390:G99S	G	-	1	0	GPR149	155629804	0.081000	0.21417	0.044000	0.18714	0.216000	0.24613	1.302000	0.33459	2.793000	0.96121	0.655000	0.94253	GGT		0.488	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		21	77	0	0	0	1	0	21	77				
ADAMTSL1	92949	broad.mit.edu	37	9	18657652	18657652	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:18657652T>C	ENST00000380548.4	+	8	1189	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S284P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	284						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACTCGGGCTCCGCTGACAG	0.493																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(850-852)Tcc>Ccc		ADAMTS-like 1							110.0	90.0	97.0					9																	18657652		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18657652T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.850T>C	9.37:g.18657652T>C	ENSP00000369921:p.Ser284Pro					ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S284P	p.S284P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	8	1189	+			284					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.850T>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	5.871	0.344780	0.11126	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.63744	-0.06;0.64;0.64;0.64	5.71	2.57	0.30868	.	.	.	.	.	T	0.29684	0.0741	N	0.02357	-0.585	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.10497	-1.0627	9	0.25106	T	0.35	.	4.2912	0.10879	0.1156:0.4032:0.3869:0.0943	.	284;284	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	P	284	ENSP00000369921:S284P;ENSP00000327887:S284P;ENSP00000369940:S284P;ENSP00000276935:S284P	ENSP00000276935:S284P	S	+	1	0	ADAMTSL1	18647652	0.998000	0.40836	0.765000	0.31456	0.020000	0.10135	2.930000	0.48924	1.394000	0.46624	-0.242000	0.12053	TCC		0.493	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			7	22	0	0	0	1	0	7	22				
SEMA6C	10500	broad.mit.edu	37	1	151109506	151109506	+	Silent	SNP	G	G	A	rs377555884		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151109506G>A	ENST00000341697.3	-	11	2492	c.801C>T	c.(799-801)ggC>ggT	p.G267G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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;0.211)			GAGGCGAGCCGCCCATGTCAC	0.567																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(799-801)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		G	,,	1,4405	2.1+/-5.4	0,1,2202	80.0	84.0	82.0		801,681,801	-9.4	0.7	1		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	267/963,227/923,267/931	151109506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151109506G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.801C>T	1.37:g.151109506G>A							p.G267G			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	2492	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		267			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.801C>T	CCDS984.1																																																																																				0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		18	113	0	0	0	1	0	18	113				
LRRC61	65999	broad.mit.edu	37	7	150034682	150034682	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150034682G>A	ENST00000359623.4	+	3	1320	c.732G>A	c.(730-732)gcG>gcA	p.A244A	LRRC61_ENST00000323078.7_Silent_p.A244A|LRRC61_ENST00000493307.1_Silent_p.A244A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	244										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGCCCAGGCGGAGCAGGTAC	0.677																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(730-732)gcG>gcA		leucine rich repeat containing 61							15.0	16.0	16.0					7																	150034682		2148	4207	6355	SO:0001819	synonymous_variant	65999							g.chr7:150034682G>A	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.732G>A	7.37:g.150034682G>A						LRRC61_ENST00000493307.1_Silent_p.A244A|LRRC61_ENST00000323078.7_Silent_p.A244A	p.A244A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1320	+			244					B3KUW0|D3DWY8	Silent	SNP	ENST00000359623.4	37	c.732G>A	CCDS5901.1																																																																																				0.677	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		4	32	0	0	0	1	0	4	32				
MFSD9	84804	broad.mit.edu	37	2	103335662	103335662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103335662G>A	ENST00000258436.5	-	6	685	c.642C>T	c.(640-642)ctC>ctT	p.L214L	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	214					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGAACCAAACGAGACCTGTTA	0.483																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(640-642)ctC>ctT		major facilitator superfamily domain containing 9							66.0	65.0	65.0					2																	103335662		2203	4300	6503	SO:0001819	synonymous_variant	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335662G>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.642C>T	2.37:g.103335662G>A							p.L214L	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			6	685	-			214					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	c.642C>T	CCDS2063.1																																																																																				0.483	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		13	80	0	0	0	1	0	13	80				
TJP3	27134	broad.mit.edu	37	19	3728407	3728407	+	Intron	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:3728407G>A	ENST00000541714.2	+	2	453				TJP3_ENST00000262968.9_Missense_Mutation_p.A12T|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000587686.1_Missense_Mutation_p.A12T|TJP3_ENST00000589378.1_Intron|TJP3_ENST00000382008.3_Intron	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3						regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.A12T(1)		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)		CATCTTCCCCGCTCCCCTCGA	0.632																																						ENST00000587686.1																			1	Substitution - Missense(1)	p.A12T(1)	endometrium(1)	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.(34-36)Gct>Act		tight junction protein 3							62.0	48.0	53.0					19																	3728407		2203	4300	6503	SO:0001627	intron_variant	27134					tight junction	protein binding	g.chr19:3728407G>A	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.-9-15G>A	19.37:g.3728407G>A						TJP3_ENST00000589378.1_Intron|TJP3_ENST00000382008.3_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.A12T|TJP3_ENST00000541714.2_Intron|TJP3_ENST00000539908.2_Intron	p.A12T			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)	1	34	+			0			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.34G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	5.465	0.270922	0.10349	.	.	ENSG00000105289	ENST00000262968	T	0.16743	2.32	3.81	-2.4	0.06583	.	4.904360	0.00687	N	0.000700	T	0.08670	0.0215	.	.	.	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.14578	0.011;0.011	T	0.21484	-1.0244	9	0.15499	T	0.54	.	5.9447	0.19211	0.0:0.2834:0.348:0.3686	.	12;12	O95049-3;O95049-2	.;.	T	12	ENSP00000262968:A12T	ENSP00000262968:A12T	A	+	1	0	TJP3	3679407	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.094000	0.15107	-0.118000	0.11851	-0.538000	0.04264	GCT		0.632	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			8	20	0	0	0	1	0	8	20				
CCDC78	124093	broad.mit.edu	37	16	775122	775122	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:775122C>T	ENST00000293889.6	-	6	621	c.516G>A	c.(514-516)gcG>gcA	p.A172A	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000564545.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	172					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GATGCTCCAGCGCCCACTTCA	0.652																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(514-516)gcG>gcA		coiled-coil domain containing 78							53.0	57.0	56.0					16																	775122		2199	4295	6494	SO:0001819	synonymous_variant	124093							g.chr16:775122C>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.516G>A	16.37:g.775122C>T							p.A172A	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			6	621	-		Hepatocellular(780;0.0218)	172					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	c.516G>A	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	C	6.768	0.510672	0.12883	.	.	ENSG00000162004	ENST00000345165	.	.	.	4.17	-8.33	0.00992	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.19844	-1.0293	4	.	.	.	-0.0759	2.9442	0.05840	0.1165:0.1462:0.2196:0.5177	.	.	.	.	H	21	.	.	R	-	2	0	CCDC78	715123	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.488000	0.00118	-1.683000	0.01444	-1.036000	0.02392	CGC		0.652	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		14	75	0	0	0	1	0	14	75				
ARHGEF6	9459	broad.mit.edu	37	X	135790919	135790919	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:135790919C>T	ENST00000250617.6	-	8	2043	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V153M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	280	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAACCTCCACAGTACTCAGA	0.358																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(838-840)Gtg>Atg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							82.0	70.0	75.0					X																	135790919		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135790919C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.838G>A	X.37:g.135790919C>T	ENSP00000250617:p.Val280Met					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V153M	p.V280M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			8	2043	-	Acute lymphoblastic leukemia(192;0.000127)		280			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.838G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481788	0.44147	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.08	6.08	0.98989	Dbl homology (DH) domain (5);	0.106892	0.64402	D	0.000005	T	0.71160	0.3307	L	0.52759	1.655	0.49051	D	0.999741	P;B	0.45283	0.855;0.372	P;B	0.53954	0.738;0.216	T	0.70048	-0.4979	10	0.49607	T	0.09	.	18.1424	0.89644	0.0:1.0:0.0:0.0	.	153;280	B7Z3C7;Q15052	.;ARHG6_HUMAN	M	280;126;126;126;153	ENSP00000250617:V280M;ENSP00000359654:V126M;ENSP00000359656:V126M;ENSP00000439483:V153M	ENSP00000250617:V280M	V	-	1	0	ARHGEF6	135618585	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	3.699000	0.54778	2.562000	0.86427	0.600000	0.82982	GTG		0.358	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		6	13	0	0	0	1	0	6	13				
TUBA1A	7846	broad.mit.edu	37	12	49579134	49579134	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49579134G>A	ENST00000295766.5	-	4	1494	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304C|TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339C	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TGGATGGTACGCTTGGTCTTG	0.547																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(1015-1017)Cgt>Tgt		tubulin, alpha 1a							115.0	93.0	101.0					12																	49579134		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579134G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1015C>T	12.37:g.49579134G>A	ENSP00000439020:p.Arg339Cys					TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304C|TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339C	p.R339C	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			4	1359	-			339					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.1015C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964486	0.34659	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84442	-1.85;-1.85;-1.85	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87136	0.6102	M	0.78456	2.415	0.80722	D	1	B	0.18741	0.03	B	0.28385	0.089	D	0.85719	0.1324	10	0.87932	D	0	.	17.3657	0.87363	0.0:0.0:1.0:0.0	.	339	Q71U36	TBA1A_HUMAN	C	339;186;339;304	ENSP00000301071:R339C;ENSP00000439020:R339C;ENSP00000446637:R304C	ENSP00000439020:R339C	R	-	1	0	TUBA1A	47865401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.115000	0.64655	2.391000	0.81399	0.556000	0.70494	CGT		0.547	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		11	74	0	0	0	1	0	11	74				
C9orf89	84270	broad.mit.edu	37	9	95869990	95869990	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562																																						ENST00000375464.2																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(40-42)acG>acA		chromosome 9 open reading frame 89							96.0	71.0	80.0					9																	95869990		2203	4300	6503	SO:0001819	synonymous_variant	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95869990G>A	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.42G>A	9.37:g.95869990G>A							p.T14T	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN			2	170	+			14			CARD.		Q5BJH8|Q9BSY2	Silent	SNP	ENST00000375464.2	37	c.42G>A	CCDS6702.2																																																																																				0.562	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		5	27	0	0	0	1	0	5	27				
SLC35G5	83650	broad.mit.edu	37	8	11189592	11189592	+	Missense_Mutation	SNP	G	G	A	rs540056808	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:11189592G>A	ENST00000382435.4	+	1	1196	c.977G>A	c.(976-978)cGg>cAg	p.R326Q		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	326						integral component of membrane (GO:0016021)		p.R326Q(1)									ATTACAGCCCGGAACCTCAGC	0.527													g|||	2	0.000399361	0.0	0.0	5008	,	,		17361	0.002		0.0	False		,,,				2504	0.0					ENST00000382435.4																			1	Substitution - Missense(1)	p.R326Q(1)	endometrium(1)								c.(976-978)cGg>cAg		solute carrier family 35, member G5							68.0	68.0	68.0					8																	11189592		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189592G>A	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.977G>A	8.37:g.11189592G>A	ENSP00000371872:p.Arg326Gln						p.R326Q	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1196	+			326					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.977G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	5.509	0.278884	0.10458	.	.	ENSG00000177710	ENST00000382435	T	0.69926	-0.44	.	.	.	.	0.165937	0.28236	N	0.016094	T	0.26159	0.0638	N	0.00538	-1.39	0.22292	N	0.999225	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	8	0.27785	T	0.31	0.2542	.	.	.	.	326	Q96KT7	S35G5_HUMAN	Q	326	ENSP00000371872:R326Q	ENSP00000371872:R326Q	R	+	2	0	SLC35G5	11227002	0.028000	0.19301	0.290000	0.24890	0.291000	0.27294	0.376000	0.20535	0.064000	0.16427	0.064000	0.15345	CGG		0.527	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		5	63	0	0	0	1	0	5	63				
PXYLP1	92370	broad.mit.edu	37	3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A	rs369570856		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:141011689G>A	ENST00000286353.4	+	6	1222	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	ACPL2_ENST00000393010.2_Missense_Mutation_p.R362H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R345H|ACPL2_ENST00000393007.1_Missense_Mutation_p.R346H|ACPL2_ENST00000508812.1_Missense_Mutation_p.R353H|ACPL2_ENST00000502783.1_Missense_Mutation_p.R324H|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		362						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGGATGCAGCGTGCCACCGAG	0.547																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(1057-1059)cGt>cAt		acid phosphatase-like 2		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	144.0	109.0	121.0		1085,1085	3.7	0.9	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	362/481,362/481	141011689	1,13005	2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011689G>A																												ENST00000286353.4:c.1085G>A	3.37:g.141011689G>A	ENSP00000286353:p.Arg362His					RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.R324H|ACPL2_ENST00000393007.1_Missense_Mutation_p.R346H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R345H|ACPL2_ENST00000286353.4_Missense_Mutation_p.R362H|ACPL2_ENST00000393010.2_Missense_Mutation_p.R362H	p.R353H			Q8TE99	ACPL2_HUMAN			5	2965	+			362					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.1058G>A	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896854	0.72639	0.0	1.16E-4	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.48	3.67	0.42095	.	0.059828	0.64402	D	0.000002	D	0.84584	0.5504	M	0.66506	2.035	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.84465	0.0596	10	0.52906	T	0.07	.	10.2298	0.43247	0.166:0.0:0.834:0.0	.	345;362	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	H	362;324;362;345;353;346;170	ENSP00000286353:R362H;ENSP00000422558:R324H;ENSP00000376733:R362H;ENSP00000426877:R345H;ENSP00000422901:R353H;ENSP00000376731:R346H	ENSP00000286353:R362H	R	+	2	0	ACPL2	142494379	0.990000	0.36364	0.857000	0.33713	0.734000	0.41952	2.019000	0.41001	1.313000	0.45069	0.655000	0.94253	CGT		0.547	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			15	77	0	0	0	1	0	15	77				
CDH16	1014	broad.mit.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66946460C>T	ENST00000299752.4	-	11	1499	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1306-1308)Gaa>Aaa		cadherin 16, KSP-cadherin							131.0	119.0	123.0					16																	66946460		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946460C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1306G>A	16.37:g.66946460C>T	ENSP00000299752:p.Glu436Lys					CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K	p.E436K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	11	1499	-		Ovarian(137;0.0563)	436			Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1306G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.729110	0.00687	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51071	0.72;0.72	4.72	-9.29	0.00653	Cadherin (4);Cadherin-like (1);	1.743040	0.02650	N	0.106323	T	0.16041	0.0386	N	0.16567	0.415	0.09310	N	1	P;P;P	0.39847	0.572;0.691;0.626	B;B;B	0.29440	0.053;0.102;0.097	T	0.44159	-0.9346	10	0.06365	T	0.9	3.216	0.9283	0.01329	0.3116:0.2024:0.103:0.383	.	436;436;436	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	436;436;400	ENSP00000377619:E436K;ENSP00000299752:E436K	ENSP00000299752:E436K	E	-	1	0	CDH16	65503961	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.589000	0.00111	-1.724000	0.01373	-0.367000	0.07326	GAA		0.592	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		14	45	0	0	0	1	0	14	45				
TTN	7273	broad.mit.edu	37	2	179588313	179588313	+	Silent	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179588313T>G	ENST00000591111.1	-	72	20787	c.20563A>C	c.(20563-20565)Aga>Cga	p.R6855R	TTN_ENST00000342992.6_Silent_p.R5928R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.R7172R			Q8WZ42	TITIN_HUMAN	titin	12446	Ig-like 50.				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)			CTGGCACCTCTGAACCAGTTG	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.(21514-21516)Aga>Cga		titin							66.0	63.0	64.0					2																	179588313		1853	4088	5941	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588313T>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.20563A>C	2.37:g.179588313T>G						TTN_ENST00000591111.1_Silent_p.R6855R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R5928R|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron	p.R7172R	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)		74	21738	-			6855			Ig-like 53.		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.21514A>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	18	0	0	0	1	0	3	18				
LHX4	89884	broad.mit.edu	37	1	180235547	180235547	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:180235547C>T	ENST00000263726.2	+	3	513	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	90	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ACAAAATGCACGGCCTGCCAG	0.612																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(268-270)aCg>aTg		LIM homeobox 4							62.0	62.0	62.0					1																	180235547		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235547C>T	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.269C>T	1.37:g.180235547C>T	ENSP00000263726:p.Thr90Met						p.T90M	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			3	513	+			90			LIM zinc-binding 2.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.269C>T	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800311	0.50315	.	.	ENSG00000121454	ENST00000263726	D	0.87729	-2.29	5.26	5.26	0.73747	Zinc finger, LIM-type (5);	0.052691	0.85682	D	0.000000	D	0.91026	0.7177	L	0.55213	1.73	0.58432	D	0.999991	D	0.71674	0.998	P	0.60949	0.881	D	0.91963	0.5580	10	0.87932	D	0	.	17.6438	0.88144	0.0:1.0:0.0:0.0	.	90	Q969G2	LHX4_HUMAN	M	90	ENSP00000263726:T90M	ENSP00000263726:T90M	T	+	2	0	LHX4	178502170	1.000000	0.71417	0.969000	0.41365	0.822000	0.46500	7.711000	0.84669	2.467000	0.83353	0.561000	0.74099	ACG		0.612	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		9	73	0	0	0	1	0	9	73				
SMARCC2	6601	broad.mit.edu	37	12	56575860	56575860	+	Silent	SNP	G	G	A	rs373505591	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575860G>A	ENST00000267064.4	-	8	722	c.636C>T	c.(634-636)taC>taT	p.Y212Y	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.Y212Y|SMARCC2_ENST00000550164.1_Silent_p.Y212Y|SMARCC2_ENST00000394023.3_Silent_p.Y212Y|SMARCC2_ENST00000550859.1_5'UTR	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	212					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCCACGTGTCGTAACTGCCAT	0.438													g|||	3	0.000599042	0.0	0.0	5008	,	,		18171	0.002		0.0	False		,,,				2504	0.001					ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(634-636)taC>taT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							72.0	66.0	68.0					12																	56575860		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575860G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.636C>T	12.37:g.56575860G>A						RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.Y212Y|SMARCC2_ENST00000347471.4_Silent_p.Y212Y|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Silent_p.Y212Y	p.Y212Y	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	741	-			212					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.636C>T	CCDS8907.1																																																																																				0.438	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			5	30	0	0	0	1	0	5	30				
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A	rs201242417		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1248					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)	p.V1248M(1)		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)		TGCAGCTGTCGTGAGCGCCAT	0.488																																						ENST00000442544.2																			1	Substitution - Missense(1)	p.V1248M(1)	urinary_tract(1)	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.(3742-3744)Gtg>Atg		deleted in colorectal carcinoma							96.0	88.0	90.0					18																	51013172		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013172G>A	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.3742G>A	18.37:g.51013172G>A	ENSP00000389140:p.Val1248Met					DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	p.V1248M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4358	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1248						Missense_Mutation	SNP	ENST00000442544.2	37	c.3742G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797157	0.31777	.	.	ENSG00000187323	ENST00000442544	T	0.52526	0.66	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000014	T	0.65626	0.2709	L	0.56769	1.78	0.54753	D	0.999983	D	0.76494	0.999	D	0.75484	0.986	T	0.63242	-0.6681	10	0.39692	T	0.17	-6.2316	17.8261	0.88666	0.0:0.0:1.0:0.0	.	1248	P43146	DCC_HUMAN	M	1248	ENSP00000389140:V1248M	ENSP00000389140:V1248M	V	+	1	0	DCC	49267170	1.000000	0.71417	0.962000	0.40283	0.522000	0.34438	8.174000	0.89682	2.499000	0.84300	0.462000	0.41574	GTG		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	55	0	0	0	1	0	15	55				
NIPSNAP1	8508	broad.mit.edu	37	22	29965224	29965224	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29965224C>T	ENST00000216121.7	-	4	579	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	109					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CAGTTGCCCACGAGTGAGCAT	0.637																																						ENST00000216121.7																			1	Unknown(1)	p.?(1)	lung(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(325-327)Gtg>Atg		nipsnap homolog 1 (C. elegans)							153.0	87.0	109.0					22																	29965224		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29965224C>T	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.325G>A	22.37:g.29965224C>T	ENSP00000216121:p.Val109Met						p.V109M	NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN			4	579	-			109					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.325G>A	CCDS13860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.091841|5.091841	0.94149|0.94149	.|.	.|.	ENSG00000184117|ENSG00000184117	ENST00000415100|ENST00000216121	.|T	.|0.54279	.|0.58	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Dimeric alpha-beta barrel (1);	.|0.057640	.|0.64402	.|N	.|0.000002	T|T	0.74749|0.74749	0.3757|0.3757	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.992	.|P;P	.|0.62885	.|0.908;0.792	T|T	0.81965|0.81965	-0.0691|-0.0691	5|10	.|0.87932	.|D	.|0	-2.7325|-2.7325	16.6039|16.6039	0.84823|0.84823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|89;109	.|B4DQI7;Q9BPW8	.|.;NIPS1_HUMAN	H|M	125|109	.|ENSP00000216121:V109M	.|ENSP00000216121:V109M	R|V	-|-	2|1	0|0	NIPSNAP1|NIPSNAP1	28295224|28295224	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.960000|0.960000	0.62799|0.62799	7.409000|7.409000	0.80053|0.80053	2.281000|2.281000	0.76405|0.76405	0.539000|0.539000	0.68188|0.68188	CGT|GTG		0.637	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			3	29	0	0	0	1	0	3	29				
ERN2	10595	broad.mit.edu	37	16	23712400	23712400	+	Silent	SNP	G	G	A	rs572180599		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:23712400G>A	ENST00000256797.4	-	12	1551	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGCAGCTCGGAGTCCCAAA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17976	0.0		0.0	False		,,,				2504	0.0					ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1381-1383)tcC>tcT		endoplasmic reticulum to nucleus signaling 2							73.0	74.0	74.0					16																	23712400		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23712400G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1383C>T	16.37:g.23712400G>A						ERN2_ENST00000457008.2_Intron	p.S461S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	12	1551	-			413						Silent	SNP	ENST00000256797.4	37	c.1383C>T	CCDS32407.1																																																																																				0.552	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434887.1			13	57	0	0	0	1	0	13	57				
C2CD2L	9854	broad.mit.edu	37	11	118986872	118986872	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118986872G>A	ENST00000336702.3	+	14	2389	c.2030G>A	c.(2029-2031)cGa>cAa	p.R677Q	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	676						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGTCCGAAAGAAGGCC	0.592																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(2029-2031)cGa>cAa		C2CD2-like							83.0	78.0	80.0					11																	118986872		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118986872G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.2030G>A	11.37:g.118986872G>A	ENSP00000338885:p.Arg677Gln					C2CD2L_ENST00000528586.1_3'UTR	p.R677Q	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			14	2389	+			676					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000336702.3	37	c.2030G>A	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581247	0.86748	.	.	ENSG00000172375	ENST00000336702	T	0.58506	0.33	5.21	5.21	0.72293	.	0.061370	0.64402	D	0.000003	T	0.64681	0.2620	L	0.39245	1.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.891	T	0.62469	-0.6848	10	0.41790	T	0.15	-9.1766	13.2882	0.60255	0.0782:0.0:0.9218:0.0	.	676;677	O14523;O14523-2	C2C2L_HUMAN;.	Q	677	ENSP00000338885:R677Q	ENSP00000338885:R677Q	R	+	2	0	C2CD2L	118492082	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.669000	0.68081	2.693000	0.91896	0.655000	0.94253	CGA		0.592	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		14	40	0	0	0	1	0	14	40				
LINC00842	643650	broad.mit.edu	37	10	47133468	47133468	+	lincRNA	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:47133468A>G	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		TCCTCCCTTCATGGGTCCAAA	0.453																																						ENST00000422732.2																			0																																																			0							g.chr10:47133468A>G			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133468A>G								NR_033957.1						0	435	-									RNA	SNP	ENST00000422732.2	37																																																																																						0.453	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		13	164	0	0	0	1	0	13	164				
AURKB	9212	broad.mit.edu	37	17	8108653	8108653	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8108653G>A	ENST00000585124.1	-	8	835	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.R249C|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTGCATGCGCCCCTCAATC	0.567																																					NSCLC(134;1161 2470 43664 51568)	ENST00000316199.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(745-747)Cgc>Tgc		aurora kinase B							147.0	118.0	128.0					17																	8108653		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8108653G>A	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.742C>T	17.37:g.8108653G>A	ENSP00000463999:p.Arg248Cys					AURKB_ENST00000585124.1_Missense_Mutation_p.R248C|AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C	p.R249C			Q96GD4	AURKB_HUMAN			8	822	-			248	MH -> ID (in Ref. 3; BAA82709).		Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.745C>T	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726690	0.48833	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.67171	-0.25	5.4	2.34	0.29019	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.324791	0.36234	N	0.002716	T	0.50257	0.1605	L	0.42686	1.345	0.80722	D	1	B;B	0.28636	0.218;0.218	B;B	0.16289	0.015;0.015	T	0.47262	-0.9131	10	0.87932	D	0	-22.2238	4.3531	0.11165	0.1656:0.0:0.5176:0.3168	.	248;248	C7G533;Q96GD4	.;AURKB_HUMAN	C	248;207	ENSP00000443869:R207C	ENSP00000313950:R248C	R	-	1	0	AURKB	8049378	0.113000	0.22115	0.939000	0.37840	0.897000	0.52465	1.137000	0.31479	0.416000	0.25844	0.650000	0.86243	CGC		0.567	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		18	72	0	0	0	1	0	18	72				
PHYHIPL	84457	broad.mit.edu	37	10	60994140	60994140	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:60994140A>G	ENST00000373880.4	+	2	447	c.183A>G	c.(181-183)atA>atG	p.I61M	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.I35M	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	61	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGCAATATAACGTGTGACT	0.368																																						ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(181-183)atA>atG		phytanoyl-CoA 2-hydroxylase interacting protein-like							114.0	102.0	106.0					10																	60994140		2203	4299	6502	SO:0001583	missense	84457							g.chr10:60994140A>G	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.183A>G	10.37:g.60994140A>G	ENSP00000362987:p.Ile61Met					PHYHIPL_ENST00000373878.3_Missense_Mutation_p.I35M	p.I61M	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			2	447	+			61			Fibronectin type-III.		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.183A>G	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889649	0.72524	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.59638	0.25;0.25	5.62	-2.89	0.05665	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.068623	0.64402	D	0.000014	T	0.54967	0.1891	L	0.29908	0.895	0.80722	D	1	D;D	0.60160	0.984;0.987	P;D	0.65010	0.877;0.931	T	0.55736	-0.8094	10	0.72032	D	0.01	-45.9301	8.3018	0.32019	0.157:0.6246:0.0:0.2184	.	35;61	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	M	61;35	ENSP00000362987:I61M;ENSP00000362985:I35M	ENSP00000362985:I35M	I	+	3	3	PHYHIPL	60664146	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	1.057000	0.30492	-0.304000	0.08843	-0.302000	0.09304	ATA		0.368	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		4	24	0	0	0	1	0	4	24				
CACHD1	57685	broad.mit.edu	37	1	65143972	65143972	+	Missense_Mutation	SNP	G	G	A	rs371572990		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65143972G>A	ENST00000371073.2	+	23	3223	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	CACHD1_ENST00000290039.5_Missense_Mutation_p.V1024I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1075					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGTCCCTACGTTGATGACAT	0.448																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3223-3225)Gtt>Att		cache domain containing 1		G	ILE/VAL	0,4406		0,0,2203	92.0	96.0	94.0		3070	4.3	0.0	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACHD1	NM_020925.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1024/1224	65143972	1,13005	2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65143972G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3223G>A	1.37:g.65143972G>A	ENSP00000360113:p.Val1075Ile					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V1024I	p.V1075I			Q5VU97	CAHD1_HUMAN			23	3223	+			1075					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3223G>A		.	.	.	.	.	.	.	.	.	.	G	12.49	1.954602	0.34471	0.0	1.16E-4	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	6.17	4.31	0.51392	.	0.215563	0.48767	N	0.000177	T	0.05090	0.0136	N	0.08118	0	0.37463	D	0.915299	B	0.10296	0.003	B	0.04013	0.001	T	0.21280	-1.0250	10	0.20046	T	0.44	-6.5353	13.0259	0.58814	0.1297:0.0:0.8703:0.0	.	1075	Q5VU97	CAHD1_HUMAN	I	1075;1024	ENSP00000360113:V1075I;ENSP00000290039:V1024I	ENSP00000290039:V1024I	V	+	1	0	CACHD1	64916560	1.000000	0.71417	0.023000	0.16930	0.993000	0.82548	5.468000	0.66743	0.938000	0.37419	0.655000	0.94253	GTT		0.448	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	25	0	0	0	1	0	5	25				
GPRASP1	9737	broad.mit.edu	37	X	101910582	101910582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:101910582G>A	ENST00000361600.5	+	5	2542	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	GPRASP1_ENST00000415986.1_Missense_Mutation_p.G581R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G581R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G581R	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	581	Glu-rich.				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						GACAATATTCGGGTCCTGGTT	0.507																																						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.(1741-1743)Ggg>Agg		G protein-coupled receptor associated sorting protein 1							83.0	91.0	88.0					X																	101910582		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910582G>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.1741G>A	X.37:g.101910582G>A	ENSP00000355146:p.Gly581Arg					GPRASP1_ENST00000415986.1_Missense_Mutation_p.G581R|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G581R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G581R|RP4-769N13.7_ENST00000602441.1_RNA	p.G581R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	2554	+			581			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1741G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665861	0.29604	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	2.76	0.91	0.19337	.	.	.	.	.	T	0.06554	0.0168	L	0.48642	1.525	0.09310	N	1	P	0.38711	0.643	B	0.21546	0.035	T	0.32402	-0.9908	9	0.41790	T	0.15	-0.2809	2.9879	0.05974	0.1567:0.0:0.5769:0.2664	.	581	Q5JY77	GASP1_HUMAN	R	581	ENSP00000393691:G581R;ENSP00000409420:G581R;ENSP00000355146:G581R;ENSP00000445683:G581R	ENSP00000355146:G581R	G	+	1	0	GPRASP1	101797238	0.278000	0.24230	0.001000	0.08648	0.448000	0.32197	0.183000	0.16919	0.131000	0.18576	0.519000	0.50382	GGG		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		24	52	0	0	0	1	0	24	52				
TTC39B	158219	broad.mit.edu	37	9	15175097	15175097	+	Silent	SNP	C	C	T	rs370022194		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:15175097C>T	ENST00000512701.2	-	19	1914	c.1878G>A	c.(1876-1878)ccG>ccA	p.P626P	TTC39B_ENST00000507993.1_Silent_p.P461P|TTC39B_ENST00000355694.2_Silent_p.P560P|TTC39B_ENST00000507285.1_Silent_p.P461P|TTC39B_ENST00000380850.4_Silent_p.P613P|TTC39B_ENST00000297615.5_Silent_p.P557P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	626										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATAGAGTGAACGGCACTAGGT	0.373																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1678-1680)ccG>ccA		tetratricopeptide repeat domain 39B		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	99.0	95.0	96.0		1872,1839,1671,1383,1878	-2.5	1.0	9		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTC39B	NM_001168339.1,NM_001168340.1,NM_001168341.1,NM_001168342.1,NM_152574.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	624/681,613/670,557/614,461/518,626/683	15175097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15175097C>T	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.1878G>A	9.37:g.15175097C>T						TTC39B_ENST00000512701.1_Silent_p.P626P|TTC39B_ENST00000297615.5_Silent_p.P557P|TTC39B_ENST00000507993.1_Silent_p.P461P|TTC39B_ENST00000380850.4_Silent_p.P613P|TTC39B_ENST00000507285.1_Silent_p.P461P	p.P560P	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			19	1914	-			560					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.1680G>A	CCDS6477.2																																																																																				0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		10	43	0	0	0	1	0	10	43				
TMCO4	255104	broad.mit.edu	37	1	20021006	20021006	+	Missense_Mutation	SNP	G	G	A	rs367840733		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20021006G>A	ENST00000294543.6	-	15	1662	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.S474L|TMCO4_ENST00000375122.2_Missense_Mutation_p.S434L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	474						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAGCTGCACCGAGGATGTGCG	0.617																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1420-1422)tCg>tTg		transmembrane and coiled-coil domains 4		G	LEU/SER	0,4406		0,0,2203	123.0	105.0	111.0		1421	3.8	0.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	474/635	20021006	1,13005	2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20021006G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1421C>T	1.37:g.20021006G>A	ENSP00000294543:p.Ser474Leu					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.S434L|TMCO4_ENST00000375127.1_Missense_Mutation_p.S474L	p.S474L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	15	1662	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	474					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1421C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.721067	0.30503	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.52526	0.66;0.66;0.66	4.68	3.75	0.43078	.	0.185160	0.36665	N	0.002473	T	0.46288	0.1385	M	0.64080	1.96	0.44719	D	0.997715	P;P;D	0.53619	0.799;0.598;0.961	B;B;B	0.43194	0.212;0.234;0.411	T	0.52578	-0.8557	10	0.87932	D	0	-13.5897	11.2705	0.49136	0.0924:0.0:0.9076:0.0	.	58;474;434	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	L	474;474;434	ENSP00000294543:S474L;ENSP00000364269:S474L;ENSP00000364264:S434L	ENSP00000294543:S474L	S	-	2	0	TMCO4	19893593	1.000000	0.71417	0.033000	0.17914	0.038000	0.13279	4.135000	0.57997	1.087000	0.41251	0.561000	0.74099	TCG		0.617	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		30	120	0	0	0	1	0	30	120				
FCGBP	8857	broad.mit.edu	37	19	40433639	40433639	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40433639C>T	ENST00000221347.6	-	2	637	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					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)			CCTTTGACCCCGAGAGATCCA	0.547																																						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.(628-630)tcG>tcA		Fc fragment of IgG binding protein							72.0	72.0	72.0					19																	40433639		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433639C>T	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.630G>A	19.37:g.40433639C>T							p.S210S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	637	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		210			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.630G>A	CCDS12546.1																																																																																				0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	78	0	0	0	1	0	7	78				
TMEM132E	124842	broad.mit.edu	37	17	32964315	32964315	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:32964315G>A	ENST00000321639.5	+	10	2347	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	673						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCCACTGTGACCCAGGACC	0.617																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2017-2019)gtG>gtA		transmembrane protein 132E							98.0	92.0	94.0					17																	32964315		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964315G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2019G>A	17.37:g.32964315G>A							p.V673V	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2347	+			673					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2019G>A	CCDS11283.1																																																																																				0.617	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		23	128	0	0	0	1	0	23	128				
SNRNP200	23020	broad.mit.edu	37	2	96963422	96963422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:96963422G>A	ENST00000323853.5	-	10	1233	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	SNRNP200_ENST00000349783.5_Nonsense_Mutation_p.R386*	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	386					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTGTCCATTCGAGACTGACGC	0.463																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1156-1158)Cga>Tga		small nuclear ribonucleoprotein 200kDa (U5)							108.0	97.0	101.0					2																	96963422		2203	4300	6503	SO:0001587	stop_gained	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96963422G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1156C>T	2.37:g.96963422G>A	ENSP00000317123:p.Arg386*					SNRNP200_ENST00000349783.5_Nonsense_Mutation_p.R386*	p.R386*	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			10	1233	-			386					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Nonsense_Mutation	SNP	ENST00000323853.5	37	c.1156C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440531	0.97568	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	.	.	.	5.69	3.8	0.43715	.	0.126880	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-7.1124	13.0031	0.58687	0.0:0.0:0.5826:0.4174	.	.	.	.	X	386;386;61	.	ENSP00000317123:R386X	R	-	1	2	SNRNP200	96327149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.205000	0.58466	1.379000	0.46325	-0.182000	0.12963	CGA		0.463	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		6	51	0	0	0	1	0	6	51				
LRP2	4036	broad.mit.edu	37	2	170048428	170048428	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:170048428G>A	ENST00000263816.3	-	48	9231	c.8946C>T	c.(8944-8946)taC>taT	p.Y2982Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2982	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.			Y -> H (in Ref. 3; AAB02882). {ECO:0000305}.	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)	p.Y2982Y(1)		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)"""	GATTCTCATCGTAGCCGTCAG	0.473																																						ENST00000263816.3																			1	Substitution - coding silent(1)	p.Y2982Y(1)	large_intestine(1)	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.(8944-8946)taC>taT		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)						99.0	92.0	94.0					2																	170048428		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.chr2:170048428G>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.8946C>T	2.37:g.170048428G>A							p.Y2982Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	48	9231	-			2982	Y -> H (in Ref. 3; AAB02882).		LDL-receptor class A 22.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8946C>T	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	60	0	0	0	1	0	4	60				
IGBP1	3476	broad.mit.edu	37	X	69370144	69370144	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:69370144G>A	ENST00000342206.6	+	5	1342	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IGBP1_ENST00000356413.4_Silent_p.P281P|IGBP1-AS2_ENST00000403371.2_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	281	Interaction with MID1.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GAGCATTACCGGATCAGGGAA	0.463																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(841-843)ccG>ccA		immunoglobulin (CD79A) binding protein 1							93.0	72.0	79.0					X																	69370144		2203	4300	6503	SO:0001819	synonymous_variant	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69370144G>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.843G>A	X.37:g.69370144G>A						IGBP1_ENST00000356413.4_Silent_p.P281P	p.P281P			P78318	IGBP1_HUMAN			5	1342	+			281					Q8TAB2	Silent	SNP	ENST00000342206.6	37	c.843G>A	CCDS14396.1																																																																																				0.463	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			7	3	0	0	0	1	0	7	3				
FMN2	56776	broad.mit.edu	37	1	240370883	240370883	+	Missense_Mutation	SNP	C	C	T	rs576376829		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:240370883C>T	ENST00000319653.9	+	5	3001	c.2771C>T	c.(2770-2772)cCg>cTg	p.P924L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	924	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)			CCTCCTCCGCCGCCTCTACCC	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		9925	0.001		0.0	False		,,,				2504	0.0					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.(2770-2772)cCg>cTg		formin 2							41.0	47.0	45.0					1																	240370883		2203	4300	6503	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.chr1:240370883C>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.2771C>T	1.37:g.240370883C>T	ENSP00000318884:p.Pro924Leu						p.P924L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3001	+	Ovarian(103;0.127)	all_cancers(173;0.013)	924			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2771C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.975	0.750010	0.15778	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.11	-0.00777	0.14008	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.209925	0.32401	N	0.006152	T	0.58395	0.2119	M	0.88704	2.975	0.09310	N	0.999991	B	0.21753	0.06	B	0.19946	0.027	T	0.52902	-0.8513	9	.	.	.	.	2.6611	0.05027	0.1479:0.5206:0.1449:0.1866	.	924	Q9NZ56	FMN2_HUMAN	L	924	ENSP00000318884:P924L	.	P	+	2	0	FMN2	238437506	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.143000	0.10296	0.162000	0.19483	0.484000	0.47621	CCG		0.677	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		27	73	0	0	0	1	0	27	73				
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0					ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(967-969)gaC>gaT		HHIP-like 1		C	,	6,4400		0,6,2197	242.0	242.0	242.0		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100123403C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	14.37:g.100123403C>T						HHIPL1_ENST00000357223.2_Silent_p.D323D	p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			3	1067	+		Melanoma(154;0.128)	323					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.969C>T	CCDS45162.1																																																																																				0.512	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		56	315	0	0	0	1	0	56	315				
RNF213	57674	broad.mit.edu	37	17	78363706	78363706	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78363706C>T	ENST00000582970.1	+	66	15417	c.15274C>T	c.(15274-15276)Cgg>Tgg	p.R5092W	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.R5141W|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3165W	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5092					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTGCTGCGGCTGCACAA	0.507																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(15274-15276)Cgg>Tgg		ring finger protein 213							95.0	92.0	93.0					17																	78363706		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78363706C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15274C>T	17.37:g.78363706C>T	ENSP00000464087:p.Arg5092Trp					RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3165W|RNF213_ENST00000508628.2_Missense_Mutation_p.R5141W|CTD-2047H16.4_ENST00000573394.1_RNA	p.R5092W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		66	15417	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.15274C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704728	0.68615	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.25579	1.79	5.38	1.96	0.26148	.	0.248373	0.32190	N	0.006452	T	0.42877	0.1222	M	0.80982	2.52	0.18873	N	0.999989	D;D	0.89917	0.999;1.0	P;P	0.61722	0.893;0.891	T	0.19516	-1.0303	10	0.66056	D	0.02	.	6.068	0.19873	0.2803:0.5434:0.104:0.0724	.	5092;3165	D6RI12;Q63HN8	.;RN213_HUMAN	W	5092;5141;3165;442	ENSP00000338218:R3165W	ENSP00000338218:R3165W	R	+	1	2	RNF213	75978301	0.995000	0.38212	0.303000	0.25071	0.830000	0.47004	1.714000	0.37961	0.602000	0.29896	0.655000	0.94253	CGG		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	60	0	0	0	1	0	7	60				
LRRK2	120892	broad.mit.edu	37	12	40653340	40653340	+	Missense_Mutation	SNP	C	C	T	rs199954611		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40653340C>T	ENST00000298910.7	+	13	1535	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	LRRK2_ENST00000343742.2_Missense_Mutation_p.R493C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	493					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTTATGAAACGTCATGAGAC	0.413																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1477-1479)Cgt>Tgt		leucine-rich repeat kinase 2		C	CYS/ARG	0,4406		0,0,2203	125.0	119.0	121.0		1477	3.3	0.6	12		121	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRRK2	NM_198578.3	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	493/2528	40653340	3,13003	2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40653340C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1477C>T	12.37:g.40653340C>T	ENSP00000298910:p.Arg493Cys					LRRK2_ENST00000343742.2_Missense_Mutation_p.R493C	p.R493C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			13	1535	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	493					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1477C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144178	0.37825	0.0	3.49E-4	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.35421	2.73;1.31;1.31	5.69	3.27	0.37495	Armadillo-like helical (1);Armadillo-type fold (1);	0.560039	0.20566	N	0.089810	T	0.18718	0.0449	N	0.22421	0.69	0.29552	N	0.851279	B;P	0.41450	0.013;0.75	B;B	0.30401	0.002;0.115	T	0.09796	-1.0658	10	0.54805	T	0.06	.	7.0875	0.25266	0.7736:0.1489:0.0774:0.0	.	493;493	E9PC85;Q5S007	.;LRRK2_HUMAN	C	241;493;493	ENSP00000398726:R241C;ENSP00000341930:R493C;ENSP00000298910:R493C	ENSP00000298910:R493C	R	+	1	0	LRRK2	38939607	0.852000	0.29690	0.597000	0.28824	0.788000	0.44548	1.427000	0.34881	0.401000	0.25424	-0.265000	0.10407	CGT		0.413	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	49	0	0	0	1	0	5	49				
PTPRS	5802	broad.mit.edu	37	19	5274309	5274309	+	Silent	SNP	C	C	T	rs140383630	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:5274309C>T	ENST00000587303.1	-	2	237	c.138G>A	c.(136-138)tcG>tcA	p.S46S	PTPRS_ENST00000590509.1_Silent_p.S46S|PTPRS_ENST00000372412.4_Silent_p.S46S|PTPRS_ENST00000348075.2_Silent_p.S46S|PTPRS_ENST00000353284.2_Silent_p.S46S|PTPRS_ENST00000357368.4_Silent_p.S46S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.S46S|PTPRS_ENST00000588012.1_Silent_p.S46S|PTPRS_ENST00000592099.1_Silent_p.S46S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	46	Ig-like C2-type 1.				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)	CCACACCCCCCGACACGCCGA	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		15086	0.002		0.0	False		,,,				2504	0.0					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.(136-138)tcG>tcA		protein tyrosine phosphatase, receptor type, S		C	,,,	2,4404	4.2+/-10.8	0,2,2201	47.0	50.0	49.0		138,138,138,138	-7.4	0.6	19	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	46/1949,46/1502,46/1911,46/1506	5274309	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5274309C>T	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.138G>A	19.37:g.5274309C>T						PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.S46S|PTPRS_ENST00000587303.1_Silent_p.S46S|PTPRS_ENST00000357368.4_Silent_p.S46S|PTPRS_ENST00000353284.2_Silent_p.S46S|PTPRS_ENST00000348075.2_Silent_p.S46S|PTPRS_ENST00000592099.1_Silent_p.S46S|PTPRS_ENST00000590509.1_Silent_p.S46S|PTPRS_ENST00000262963.6_Silent_p.S46S	p.S46S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	3	371	-			46			Ig-like C2-type 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.138G>A	CCDS45930.1																																																																																				0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			12	37	0	0	0	1	0	12	37				
THSD7A	221981	broad.mit.edu	37	7	11630114	11630114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:11630114G>A	ENST00000423059.4	-	4	1677	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	476	TSP type-1 4. {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)		GTACTTAATTGTGAGAGGAGG	0.507										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.(1426-1428)Caa>Taa		thrombospondin, type I, domain containing 7A							90.0	94.0	92.0					7																	11630114		1935	4137	6072	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11630114G>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.1426C>T	7.37:g.11630114G>A	ENSP00000406482:p.Gln476*	HNSCC(18;0.044)					p.Q476*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1677	-			476			TSP type-1 4.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.1426C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	38	6.914588	0.97932	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.68	4.69	0.59074	.	0.588618	0.18916	N	0.127617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	3.7185	0.08448	0.3386:0.0:0.6614:0.0	.	.	.	.	X	476	.	ENSP00000262042:Q476X	Q	-	1	0	THSD7A	11596639	0.988000	0.35896	0.013000	0.15412	0.006000	0.05464	2.557000	0.45871	2.687000	0.91594	0.655000	0.94253	CAA		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		7	36	0	0	0	1	0	7	36				
ARHGAP25	9938	broad.mit.edu	37	2	69049673	69049673	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69049673A>G	ENST00000295381.3	+	10	1818	c.1399A>G	c.(1399-1401)Aat>Gat	p.N467D	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N461D|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N460D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N161D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N428D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N468D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	467					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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GATCTTTAAAAATGAATTCTG	0.473																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1399-1401)Aat>Gat		Rho GTPase activating protein 25							83.0	85.0	84.0					2																	69049673		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049673A>G	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1399A>G	2.37:g.69049673A>G	ENSP00000295381:p.Asn467Asp					ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N460D|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N461D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N161D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N428D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N468D	p.N467D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			10	1818	+			467					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1399A>G		.	.	.	.	.	.	.	.	.	.	A	14.47	2.543793	0.45280	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	T;T;T;T;T;T	0.18338	2.82;2.82;2.55;2.82;2.82;2.22	5.38	5.38	0.77491	.	0.339190	0.30235	N	0.010084	T	0.16342	0.0393	L	0.43923	1.385	0.80722	D	1	P;P;P;P;B	0.43352	0.651;0.804;0.804;0.804;0.017	B;B;B;B;B	0.41571	0.15;0.36;0.36;0.36;0.01	T	0.05533	-1.0879	10	0.15499	T	0.54	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	428;468;461;460;467	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.;.;.;.;RHG25_HUMAN	D	467;468;428;460;461;461;452;161	ENSP00000295381:N467D;ENSP00000386911:N468D;ENSP00000420583:N428D;ENSP00000386863:N460D;ENSP00000386241:N461D;ENSP00000417467:N161D	ENSP00000295381:N467D	N	+	1	0	ARHGAP25	68903177	0.195000	0.23338	1.000000	0.80357	0.993000	0.82548	2.459000	0.45023	2.158000	0.67659	0.455000	0.32223	AAT		0.473	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		18	73	0	0	0	1	0	18	73				
GGA1	26088	broad.mit.edu	37	22	38028044	38028044	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:38028044C>T	ENST00000343632.4	+	15	1956	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	GGA1_ENST00000381756.5_Missense_Mutation_p.R541C|GGA1_ENST00000337437.4_Missense_Mutation_p.R491C|GGA1_ENST00000406772.1_Missense_Mutation_p.R451C|GGA1_ENST00000325180.8_Missense_Mutation_p.R437C	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	524	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCACGGCTTCCGCATCCTCTT	0.647																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1351-1353)Cgc>Tgc		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							103.0	75.0	85.0					22																	38028044		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38028044C>T	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1570C>T	22.37:g.38028044C>T	ENSP00000341344:p.Arg524Cys					GGA1_ENST00000343632.4_Missense_Mutation_p.R524C|GGA1_ENST00000337437.4_Missense_Mutation_p.R491C|GGA1_ENST00000325180.8_Missense_Mutation_p.R437C|GGA1_ENST00000381756.5_Missense_Mutation_p.R541C	p.R451C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			16	2003	+	Melanoma(58;0.0574)		524			Unstructured hinge.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1351C>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383887	0.82792	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.78	3.75	0.43078	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.83012	2.62	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	T	0.75722	-0.3218	10	0.87932	D	0	-18.2191	14.2719	0.66157	0.1501:0.8498:0.0:0.0	.	541;437;524	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	C	524;541;437;491;451	ENSP00000341344:R524C;ENSP00000371175:R541C;ENSP00000321288:R437C;ENSP00000338647:R491C;ENSP00000385287:R451C	ENSP00000321288:R437C	R	+	1	0	GGA1	36357990	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.139000	0.50577	0.996000	0.38943	-0.314000	0.08810	CGC		0.647	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		10	54	0	0	0	1	0	10	54				
SWAP70	23075	broad.mit.edu	37	11	9746375	9746375	+	Silent	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:9746375T>G	ENST00000318950.6	+	4	688	c.585T>G	c.(583-585)acT>acG	p.T195T	SWAP70_ENST00000447399.2_Silent_p.T137T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	195					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACCGGCAGACTGTGTCTATGG	0.333																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(583-585)acT>acG		SWAP switching B-cell complex 70kDa subunit							112.0	111.0	111.0					11																	9746375		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9746375T>G	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.585T>G	11.37:g.9746375T>G						SWAP70_ENST00000447399.2_Silent_p.T137T	p.T195T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	4	688	+			195					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.585T>G	CCDS31426.1																																																																																				0.333	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		16	52	0	0	0	1	0	16	52				
ERMARD	55780	broad.mit.edu	37	6	170159960	170159960	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:170159960C>T	ENST00000366773.3	+	7	665	c.632C>T	c.(631-633)aCg>aTg	p.T211M	ERMARD_ENST00000418781.3_Missense_Mutation_p.T211M|ERMARD_ENST00000392095.4_Missense_Mutation_p.T85M|ERMARD_ENST00000588451.1_Missense_Mutation_p.T85M|ERMARD_ENST00000366772.2_Missense_Mutation_p.T211M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	211					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ATACTGTTGACGGCAGGATTG	0.358																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(253-255)aCg>aTg									191.0	175.0	180.0					6																	170159960		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170159960C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.632C>T	6.37:g.170159960C>T	ENSP00000355735:p.Thr211Met					C6orf70_ENST00000366773.3_Missense_Mutation_p.T211M|C6orf70_ENST00000366772.2_Missense_Mutation_p.T211M|C6orf70_ENST00000418781.3_Missense_Mutation_p.T211M|C6orf70_ENST00000392095.4_Missense_Mutation_p.T85M	p.T85M			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	7	767	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	211					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.254C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802304	0.31869	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.49139	0.8;0.79	4.93	3.15	0.36227	.	0.000000	0.56097	D	0.000040	T	0.51568	0.1682	M	0.73598	2.24	0.29594	N	0.848199	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.942;0.978	T	0.51458	-0.8703	10	0.87932	D	0	.	8.9183	0.35596	0.0:0.8221:0.0:0.1779	.	211;211;211	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	M	211;211;211;85	ENSP00000355735:T211M;ENSP00000375945:T85M	ENSP00000355734:T211M	T	+	2	0	C6orf70	169901885	0.998000	0.40836	0.159000	0.22649	0.142000	0.21351	2.965000	0.49200	0.599000	0.29845	0.563000	0.77884	ACG		0.358	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		8	44	0	0	0	1	0	8	44				
DOT1L	84444	broad.mit.edu	37	19	2226857	2226857	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:2226857C>T	ENST00000398665.3	+	27	4373	c.4337C>T	c.(4336-4338)cCg>cTg	p.P1446L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1446					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)		GGCCTGGCCCCGGCGGCGTCC	0.756																																						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.(4336-4338)cCg>cTg		DOT1-like histone H3K79 methyltransferase																																				SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226857C>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.4337C>T	19.37:g.2226857C>T	ENSP00000381657:p.Pro1446Leu						p.P1446L	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)	27	4373	+		Hepatocellular(1079;0.137)	1446					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4337C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420306	0.25552	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.30714	1.93;1.52	4.42	3.32	0.38043	.	0.428856	0.19142	N	0.121676	T	0.19725	0.0474	L	0.36672	1.1	0.09310	N	1	B;P	0.35700	0.273;0.516	B;B	0.25759	0.013;0.063	T	0.21586	-1.0241	10	0.87932	D	0	-6.1864	8.7943	0.34870	0.1684:0.6686:0.163:0.0	.	1446;1446	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	L	1446;1446;326	ENSP00000381657:P1446L;ENSP00000407411:P326L	ENSP00000221482:P1446L	P	+	2	0	DOT1L	2177857	0.005000	0.15991	0.008000	0.14137	0.134000	0.20937	1.875000	0.39578	2.003000	0.58678	0.561000	0.74099	CCG		0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		6	34	0	0	0	1	0	6	34				
ORC2	4999	broad.mit.edu	37	2	201800586	201800586	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:201800586C>T	ENST00000234296.2	-	9	793	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	182					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.E182*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GCAGAATATTCGCTTTCACTG	0.428																																						ENST00000234296.2																			1	Substitution - Nonsense(1)	p.E182*(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(544-546)Gaa>Aaa		origin recognition complex, subunit 2							104.0	98.0	100.0					2																	201800586		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201800586C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.544G>A	2.37:g.201800586C>T	ENSP00000234296:p.Glu182Lys						p.E182K	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			9	793	-			182					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.544G>A	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359823	0.95854	.	.	ENSG00000115942	ENST00000234296	T	0.35789	1.29	5.24	5.24	0.73138	.	0.096086	0.64402	D	0.000001	T	0.52386	0.1731	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	P;P	0.60236	0.871;0.746	T	0.37220	-0.9715	10	0.21014	T	0.42	-12.59	18.7709	0.91892	0.0:1.0:0.0:0.0	.	182;182	B4DYU9;Q13416	.;ORC2_HUMAN	K	182	ENSP00000234296:E182K	ENSP00000234296:E182K	E	-	1	0	ORC2	201508831	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.197000	0.65141	2.620000	0.88729	0.555000	0.69702	GAA		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		5	25	0	0	0	1	0	5	25				
COPB1	1315	broad.mit.edu	37	11	14491012	14491012	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:14491012C>T	ENST00000249923.3	-	15	2135	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	COPB1_ENST00000439561.2_Missense_Mutation_p.R612Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	612					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGGGAAATTCGATCCACATC	0.408																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1834-1836)cGa>cAa		coatomer protein complex, subunit beta 1							143.0	132.0	136.0					11																	14491012		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491012C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1835G>A	11.37:g.14491012C>T	ENSP00000249923:p.Arg612Gln					COPB1_ENST00000439561.2_Missense_Mutation_p.R612Q	p.R612Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2135	-			612					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1835G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000311	0.97189	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.16743	2.32;2.32	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	T	0.48758	-0.9007	10	0.62326	D	0.03	-5.6557	20.2983	0.98569	0.0:1.0:0.0:0.0	.	612	P53618	COPB_HUMAN	Q	612	ENSP00000249923:R612Q;ENSP00000397873:R612Q	ENSP00000249923:R612Q	R	-	2	0	COPB1	14447588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.535000	0.82014	2.802000	0.96397	0.655000	0.94253	CGA		0.408	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		10	45	0	0	0	1	0	10	45				
DIP2B	57609	broad.mit.edu	37	12	51064979	51064979	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:51064979G>A	ENST00000301180.5	+	5	472	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	146	Ser-rich.					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						ACACATCTTCGGCCTCTGAGG	0.468																																						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.(436-438)tcG>tcA		DIP2 disco-interacting protein 2 homolog B (Drosophila)							94.0	83.0	87.0					12																	51064979		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51064979G>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.438G>A	12.37:g.51064979G>A							p.S146S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			5	472	+			146			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.438G>A	CCDS31799.1																																																																																				0.468	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	51	0	0	0	1	0	5	51				
BMP5	653	broad.mit.edu	37	6	55684477	55684477	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55684477T>C	ENST00000370830.3	-	2	1357	c.659A>G	c.(658-660)cAa>cGa	p.Q220R	BMP5_ENST00000446683.2_Missense_Mutation_p.Q220R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	220					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGATGATTTGATATATGCT	0.323																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(658-660)cAa>cGa		bone morphogenetic protein 5							85.0	77.0	80.0					6																	55684477		2202	4300	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684477T>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.659A>G	6.37:g.55684477T>C	ENSP00000359866:p.Gln220Arg					BMP5_ENST00000446683.2_Missense_Mutation_p.Q220R	p.Q220R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	1357	-	Lung NSC(77;0.0462)		220					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.659A>G	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083818	0.76642	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.64618	-0.11;-0.11	5.74	5.74	0.90152	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.78163	-0.2311	10	0.87932	D	0	.	16.0546	0.80788	0.0:0.0:0.0:1.0	.	220;220	B4E0Y4;P22003	.;BMP5_HUMAN	R	220	ENSP00000359866:Q220R;ENSP00000391818:Q220R	ENSP00000359866:Q220R	Q	-	2	0	BMP5	55792436	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.191000	0.70037	0.528000	0.53228	CAA		0.323	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			6	16	0	0	0	1	0	6	16				
FAM86A	196483	broad.mit.edu	37	16	5140531	5140531	+	Silent	SNP	C	C	T	rs138095454	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:5140531C>T	ENST00000427587.4	-	5	446	c.378G>A	c.(376-378)acG>acA	p.T126T	FAM86A_ENST00000458008.4_Silent_p.T92T|FAM86A_ENST00000587133.1_Silent_p.T65T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	126						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGATGATGGCCGTGCTCTCGG	0.587													N|||	5	0.000998403	0.0	0.0	5008	,	,		20623	0.0		0.0	False		,,,				2504	0.0051					ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(376-378)acG>acA		family with sequence similarity 86, member A							84.0	82.0	83.0					16																	5140531		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5140531C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.378G>A	16.37:g.5140531C>T						FAM86A_ENST00000458008.4_Silent_p.T92T|FAM86A_ENST00000587133.1_Silent_p.T65T	p.T126T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			5	446	-			126					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.378G>A	CCDS10529.1																																																																																				0.587	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		10	84	0	0	0	1	0	10	84				
AKAP12	9590	broad.mit.edu	37	6	151670568	151670568	+	Missense_Mutation	SNP	G	G	A	rs200318359		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:151670568G>A	ENST00000253332.1	+	3	1231	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E250K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E348K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E243K|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	348	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTTGCCTCCGAGAAACTGAC	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1042-1044)Gag>Aag		A kinase (PRKA) anchor protein 12		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	56.0	70.0	65.0		1042,748	3.7	0.1	6		65	0,8600		0,0,4300	yes	missense,missense	AKAP12	NM_005100.3,NM_144497.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	348/1783,250/1685	151670568	1,13005	2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670568G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1042G>A	6.37:g.151670568G>A	ENSP00000253332:p.Glu348Lys					AKAP12_ENST00000359755.5_Missense_Mutation_p.E243K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E250K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E348K	p.E348K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1282	+		Ovarian(120;0.125)	348			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1042G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786394	0.70337	2.27E-4	0.0	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10477	2.87;2.87;2.89;2.89	4.52	3.65	0.41850	.	0.000000	0.36303	N	0.002671	T	0.11067	0.0270	M	0.62723	1.935	0.25185	N	0.990178	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.64595	0.927;0.927;0.847	T	0.10917	-1.0609	10	0.22109	T	0.4	.	8.7505	0.34613	0.1069:0.0:0.8931:0.0	.	243;250;348	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	348;348;250;243	ENSP00000384537:E348K;ENSP00000253332:E348K;ENSP00000346702:E250K;ENSP00000352794:E243K	ENSP00000253332:E348K	E	+	1	0	AKAP12	151712261	0.995000	0.38212	0.092000	0.20876	0.065000	0.16274	2.216000	0.42871	1.042000	0.40150	0.609000	0.83330	GAG		0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			7	69	0	0	0	1	0	7	69				
ASAP1	50807	broad.mit.edu	37	8	131073267	131073267	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:131073267G>A	ENST00000518721.1	-	28	2977	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	ASAP1_ENST00000357668.1_Missense_Mutation_p.P917L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	917	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATTTCGGGCGGGATGGTGGC	0.532																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2749-2751)cCg>cTg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							110.0	120.0	117.0					8																	131073267		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073267G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2750C>T	8.37:g.131073267G>A	ENSP00000429900:p.Pro917Leu					ASAP1_ENST00000518721.1_Missense_Mutation_p.P917L	p.P917L			Q9ULH1	ASAP1_HUMAN			27	2777	-			917			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2750C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506735	0.26949	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06142	3.34;3.34	5.64	5.64	0.86602	.	0.991693	0.08183	N	0.985040	T	0.08358	0.0208	L	0.48642	1.525	0.54753	D	0.99998	P;P;P	0.39696	0.555;0.555;0.683	B;B;B	0.33521	0.08;0.08;0.165	T	0.28870	-1.0030	10	0.48119	T	0.1	.	12.3512	0.55148	0.0:0.0:0.7341:0.2659	.	917;917;920	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	L	920;917;917	ENSP00000350297:P917L;ENSP00000429900:P917L	ENSP00000344591:P920L	P	-	2	0	ASAP1	131142449	1.000000	0.71417	0.554000	0.28268	0.286000	0.27126	5.611000	0.67674	2.653000	0.90120	0.655000	0.94253	CCG		0.532	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		14	118	0	0	0	1	0	14	118				
B3GNT7	93010	broad.mit.edu	37	2	232262921	232262921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232262921C>T	ENST00000287590.5	+	2	752	c.491C>T	c.(490-492)gCg>gTg	p.A164V	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	164					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGGCAGTCCGCGGGTGGGGGC	0.701																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(490-492)gCg>gTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							12.0	14.0	13.0					2																	232262921		1857	4057	5914	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262921C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.491C>T	2.37:g.232262921C>T	ENSP00000287590:p.Ala164Val					B3GNT7_ENST00000479618.1_3'UTR	p.A164V	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	752	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	164					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.491C>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	3.489	-0.104267	0.06967	.	.	ENSG00000156966	ENST00000287590	T	0.43294	0.95	5.2	-0.282	0.12878	.	0.422483	0.24962	N	0.034208	T	0.21468	0.0517	L	0.28400	0.85	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.07443	-1.0772	10	0.30078	T	0.28	.	1.0333	0.01543	0.3047:0.3509:0.105:0.2394	.	164	Q8NFL0	B3GN7_HUMAN	V	164	ENSP00000287590:A164V	ENSP00000287590:A164V	A	+	2	0	B3GNT7	231971165	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.072000	0.11486	-0.065000	0.13021	0.655000	0.94253	GCG		0.701	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		4	17	0	0	0	1	0	4	17				
ZNF660	285349	broad.mit.edu	37	3	44636041	44636041	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:44636041C>T	ENST00000322734.2	+	3	689	c.356C>T	c.(355-357)tCa>tTa	p.S119L	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTGGAAAGTCACATCTTATT	0.448																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(355-357)tCa>tTa		zinc finger protein 660							67.0	74.0	72.0					3																	44636041		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636041C>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.356C>T	3.37:g.44636041C>T	ENSP00000324605:p.Ser119Leu					RP11-944L7.4_ENST00000457331.1_RNA	p.S119L	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	689	+			119					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.356C>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539771	0.45176	.	.	ENSG00000144792	ENST00000322734	T	0.07444	3.19	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	M	0.68593	2.085	0.80722	D	1	P	0.43477	0.808	P	0.44597	0.454	T	0.02603	-1.1135	8	.	.	.	.	16.0513	0.80765	0.0:1.0:0.0:0.0	.	119	Q6AZW8	ZN660_HUMAN	L	119	ENSP00000324605:S119L	.	S	+	2	0	ZNF660	44611045	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	0.242000	0.18087	2.376000	0.81061	0.650000	0.86243	TCA		0.448	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		8	31	0	0	0	1	0	8	31				
MYH6	4624	broad.mit.edu	37	14	23868103	23868103	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:23868103T>G	ENST00000356287.3	-	14	1754	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	MYH6_ENST00000405093.3_Missense_Mutation_p.E575D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	575	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGAAGTGGGCTTCCTGCTTCC	0.547																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1723-1725)gaA>gaC		myosin, heavy chain 6, cardiac muscle, alpha							241.0	183.0	203.0					14																	23868103		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23868103T>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1725A>C	14.37:g.23868103T>G	ENSP00000348634:p.Glu575Asp					MYH6_ENST00000356287.3_Missense_Mutation_p.E575D	p.E575D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1795	-	all_cancers(95;2.54e-05)		575			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1725A>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	18.85	3.712307	0.68730	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87412	-2.25;-2.25	4.61	-0.431	0.12295	Myosin head, motor domain (2);	.	.	.	.	D	0.88775	0.6528	L	0.43923	1.385	0.47511	D	0.999446	P	0.51933	0.949	D	0.77557	0.99	D	0.85673	0.1296	9	0.72032	D	0.01	.	8.9383	0.35713	0.0:0.5857:0.0:0.4143	.	575	P13533	MYH6_HUMAN	D	575	ENSP00000386041:E575D;ENSP00000348634:E575D	ENSP00000348634:E575D	E	-	3	2	MYH6	22937943	0.991000	0.36638	0.985000	0.45067	0.705000	0.40729	0.281000	0.18810	-0.021000	0.14009	0.533000	0.62120	GAA		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			10	40	0	0	0	1	0	10	40				
ANK1	286	broad.mit.edu	37	8	41525928	41525928	+	Missense_Mutation	SNP	C	C	T	rs142163190		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:41525928C>T	ENST00000347528.4	-	39	5334	c.5251G>A	c.(5251-5253)Gag>Aag	p.E1751K	ANK1_ENST00000396945.1_Missense_Mutation_p.E1751K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1751K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1751K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1751K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1792K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1751K|RP11-930P14.1_ENST00000522388.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1751	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACCTTCTCGTACTCCTGA	0.582																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5251-5253)Gag>Aag		ankyrin 1, erythrocytic							149.0	113.0	125.0					8																	41525928		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41525928C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5251G>A	8.37:g.41525928C>T	ENSP00000339620:p.Glu1751Lys					ANK1_ENST00000265709.8_Missense_Mutation_p.E1792K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1751K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1751K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1751K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1751K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1751K	p.E1751K			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		39	5334	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1751			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5251G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.032|0.032	-1.328242|-1.328242	0.01309|0.01309	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709|ENST00000520299	T;T;T;T;T;T;T|.	0.68903|.	-0.25;-0.24;-0.22;-0.36;-0.23;-0.24;-0.24|.	3.95|3.95	2.15|2.15	0.27550|0.27550	.|.	1.328570|.	0.05045|.	N|.	0.476984|.	T|T	0.25195|0.25195	0.0612|0.0612	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.12013|.	0.002;0.001;0.001;0.001;0.005;0.003|.	B;B;B;B;B;B|.	0.08055|.	0.002;0.001;0.0;0.001;0.003;0.001|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.19147|.	T|.	0.46|.	.|.	8.0318|8.0318	0.30470|0.30470	0.0:0.8075:0.0:0.1925|0.0:0.8075:0.0:0.1925	.|.	1792;1589;1751;1751;1751;905|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1751;1751;1751;1751;1751;1751;1792|910	ENSP00000339620:E1751K;ENSP00000289734:E1751K;ENSP00000369082:E1751K;ENSP00000380149:E1751K;ENSP00000380147:E1751K;ENSP00000309131:E1751K;ENSP00000265709:E1792K|.	ENSP00000265709:E1792K|.	E|R	-|-	1|2	0|0	ANK1|ANK1	41645085|41645085	0.022000|0.022000	0.18835|0.18835	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.311000|1.311000	0.33562|0.33562	0.476000|0.476000	0.27440|0.27440	-0.671000|-0.671000	0.03813|0.03813	GAG|CGA		0.582	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	59	0	0	0	1	0	11	59				
TCEB3CL	728929	broad.mit.edu	37	18	44549172	44549172	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:44549172T>C	ENST00000451265.1	-	1	1362	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	376	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						CTCTGTGCGGTACGGCTGATC	0.577																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1126-1128)tAc>tGc		transcription elongation factor B polypeptide 3C-like							238.0	203.0	214.0					18																	44549172		1725	3426	5151	SO:0001583	missense	728929							g.chr18:44549172T>C			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1127A>G	18.37:g.44549172T>C	ENSP00000409932:p.Tyr376Cys					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.Y376C	NM_001100817.1	NP_001094287.1					1	1362	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1127A>G	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519461	0.27211	.	.	ENSG00000234298	ENST00000451265	T	0.31247	1.5	1.5	-1.56	0.08532	.	0.747399	0.11440	N	0.563885	T	0.22166	0.0534	L	0.42487	1.325	0.23685	N	0.997116	B	0.24132	0.098	B	0.30716	0.119	T	0.33189	-0.9878	10	0.48119	T	0.1	0.0182	2.4922	0.04613	0.234:0.1674:0.0:0.5986	.	376	Q3SY89	EA3L1_HUMAN	C	376	ENSP00000409932:Y376C	ENSP00000409932:Y376C	Y	-	2	0	TCEB3CL	42803170	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.346000	0.52190	-0.383000	0.07858	-0.451000	0.05528	TAC		0.577	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		19	354	0	0	0	1	0	19	354				
SLIT3	6586	broad.mit.edu	37	5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	rs143627388	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:168244341C>T	ENST00000519560.1	-	8	1176	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	253	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597													C|||	4	0.000798722	0.0008	0.0	5008	,	,		17290	0.0		0.003	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(757-759)Gtg>Atg		slit homolog 3 (Drosophila)		C	MET/VAL	0,4406		0,0,2203	92.0	83.0	86.0		757	5.2	0.8	5	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLIT3	NM_003062.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	253/1524	168244341	2,13004	2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244341C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.757G>A	5.37:g.168244341C>T	ENSP00000430333:p.Val253Met					SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M|SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M	p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1176	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	253			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.757G>A	CCDS4369.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.8	4.776189	0.90195	0.0	2.33E-4	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.11	5.25	5.25	0.73442	Cysteine-rich flanking region, C-terminal (2);	0.111348	0.64402	D	0.000012	D	0.89015	0.6595	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.985;0.986	D	0.90351	0.4366	10	0.87932	D	0	.	18.8657	0.92292	0.0:1.0:0.0:0.0	.	253;253;253	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	M	253	ENSP00000430333:V253M;ENSP00000332164:V253M;ENSP00000384890:V253M	ENSP00000332164:V253M	V	-	1	0	SLIT3	168176919	1.000000	0.71417	0.841000	0.33234	0.911000	0.54048	7.818000	0.86416	2.459000	0.83118	0.462000	0.41574	GTG		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		4	44	0	0	0	1	0	4	44				
TTC14	151613	broad.mit.edu	37	3	180324131	180324131	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:180324131C>T	ENST00000296015.4	+	8	1152	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	TTC14_ENST00000382584.4_Silent_p.N340N|TTC14_ENST00000412756.2_Silent_p.N340N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	340							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAAACAAAACGTGGAAGCTT	0.363																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1018-1020)aaC>aaT		tetratricopeptide repeat domain 14							132.0	129.0	130.0					3																	180324131		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180324131C>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1020C>T	3.37:g.180324131C>T						TTC14_ENST00000382584.4_Silent_p.N340N|TTC14_ENST00000296015.4_Silent_p.N340N	p.N340N	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1089	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		340					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.1020C>T	CCDS3237.1																																																																																				0.363	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	52	0	0	0	1	0	5	52				
ARAF	369	broad.mit.edu	37	X	47428238	47428238	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:47428238C>T	ENST00000377045.4	+	11	1392	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	400	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)	GGCCGACACACGCTTCGACAT	0.632											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000264901	0.0	0.0	3775	,	,		11255	0.0		0.001	False		,,,				2504	0.0					ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1198-1200)Cgc>Tgc		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						52.0	36.0	42.0					X																	47428238		2203	4300	6503	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:47428238C>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.1198C>T	X.37:g.47428238C>T	ENSP00000366244:p.Arg400Cys		OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946	ARAF_ENST00000290277.6_3'UTR	p.R400C	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			11	1392	+			400			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.1198C>T	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167726	0.78339	.	.	ENSG00000078061	ENST00000377045	D	0.83250	-1.7	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064532	0.64402	D	0.000012	D	0.89030	0.6599	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.64877	0.892;0.93	D	0.89946	0.4076	10	0.87932	D	0	.	10.7863	0.46407	0.189:0.811:0.0:0.0	.	400;266	P10398;B4DV85	ARAF_HUMAN;.	C	400	ENSP00000366244:R400C	ENSP00000366244:R400C	R	+	1	0	ARAF	47313182	0.994000	0.37717	0.985000	0.45067	0.885000	0.51271	3.290000	0.51755	2.273000	0.75805	0.422000	0.28245	CGC		0.632	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			5	6	0	0	0	1	0	5	6				
PHKB	5257	broad.mit.edu	37	16	47630341	47630341	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:47630341A>T	ENST00000323584.5	+	13	1286	c.1262A>T	c.(1261-1263)aAa>aTa	p.K421I	PHKB_ENST00000299167.8_Missense_Mutation_p.K421I|PHKB_ENST00000455779.1_Missense_Mutation_p.K414I|PHKB_ENST00000566044.1_Missense_Mutation_p.K414I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	421					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)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATATGAAAAAAATAACCCT	0.348																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1240-1242)aAa>aTa		phosphorylase kinase, beta							91.0	98.0	96.0					16																	47630341		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47630341A>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1262A>T	16.37:g.47630341A>T	ENSP00000313504:p.Lys421Ile					PHKB_ENST00000323584.5_Missense_Mutation_p.K421I|PHKB_ENST00000566044.1_Missense_Mutation_p.K414I|PHKB_ENST00000299167.8_Missense_Mutation_p.K421I	p.K414I			Q93100	KPBB_HUMAN			14	1426	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	421					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1241A>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.953836	0.92660	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.93247	-3.19;-3.19	5.73	5.73	0.89815	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.047561	0.85682	D	0.000000	D	0.95249	0.8459	L	0.56396	1.775	0.80722	D	1	D;D	0.56968	0.978;0.971	P;P	0.61003	0.882;0.809	D	0.95335	0.8433	10	0.56958	D	0.05	-22.9088	16.0183	0.80460	1.0:0.0:0.0:0.0	.	421;414	Q93100;Q93100-4	KPBB_HUMAN;.	I	414;414;421	ENSP00000414345:K414I;ENSP00000313504:K421I	ENSP00000299167:K414I	K	+	2	0	PHKB	46187842	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	9.079000	0.94032	2.187000	0.69744	0.533000	0.62120	AAA		0.348	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			6	77	0	0	0	1	0	6	77				
SERPINA4	5267	broad.mit.edu	37	14	95034589	95034589	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:95034589C>T	ENST00000557004.1	+	4	1468	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	SERPINA4_ENST00000298841.5_Silent_p.S349S|SERPINA4_ENST00000555095.1_Silent_p.S349S|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	349					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGACTTATCCGGCATCACCA	0.507																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1045-1047)tcC>tcT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							81.0	78.0	79.0					14																	95034589		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95034589C>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1047C>T	14.37:g.95034589C>T						SERPINA4_ENST00000555095.1_Silent_p.S349S|SERPINA4_ENST00000298841.5_Silent_p.S349S|SERPINA5_ENST00000553780.1_Intron	p.S349S			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1468	+			349					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.1047C>T	CCDS9927.1																																																																																				0.507	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		4	31	0	0	0	1	0	4	31				
BEST3	144453	broad.mit.edu	37	12	70070800	70070800	+	Missense_Mutation	SNP	G	G	A	rs200668742		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70070800G>A	ENST00000330891.5	-	7	989	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.R255C|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R149C	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	255					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R255C(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAACTGGCGTCCAATCAGG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20143	0.001		0.0	False		,,,				2504	0.0					ENST00000330891.5																			1	Substitution - Missense(1)	p.R255C(1)	prostate(1)	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(763-765)Cgc>Tgc		bestrophin 3							93.0	93.0	93.0					12																	70070800		2025	4178	6203	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70070800G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.763C>T	12.37:g.70070800G>A	ENSP00000332413:p.Arg255Cys					BEST3_ENST00000331471.4_Missense_Mutation_p.R255C|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R149C	p.R255C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		7	989	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		255					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.763C>T	CCDS8992.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.4	4.831023	0.91036	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096	D;D;D	0.98901	-5.22;-5.22;-5.22	5.47	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.98429	1.0581	10	0.87932	D	0	-18.6627	16.173	0.81831	0.0:0.0:0.8661:0.1339	.	255;255	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	C	255;255;149	ENSP00000329064:R255C;ENSP00000332413:R255C;ENSP00000449548:R149C	ENSP00000332413:R255C	R	-	1	0	BEST3	68357067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.701000	0.74624	1.413000	0.46997	0.655000	0.94253	CGC		0.517	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		9	51	0	0	0	1	0	9	51				
RXRA	6256	broad.mit.edu	37	9	137321060	137321060	+	Silent	SNP	C	C	T	rs373205831		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:137321060C>T	ENST00000481739.1	+	7	1069	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.S242S	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	339	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCGCCCACAGCGCAGGGGTGG	0.687																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(724-726)agC>agT		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	C		0,4406		0,0,2203	47.0	50.0	49.0		1017	2.1	1.0	9		49	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RXRA	NM_002957.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		339/463	137321060	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137321060C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1017C>T	9.37:g.137321060C>T						RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.S339S	p.S242S			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	6	1649	+			339			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.726C>T	CCDS35172.1																																																																																				0.687	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		21	77	0	0	0	1	0	21	77				
LCT	3938	broad.mit.edu	37	2	136574943	136574943	+	Missense_Mutation	SNP	C	C	T	rs147029208		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:136574943C>T	ENST00000264162.2	-	6	1685	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	559	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCAGAGATGCCGGGAGGGTGC	0.552																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1675-1677)Ggc>Agc		lactase		C	SER/GLY	0,4406		0,0,2203	60.0	61.0	61.0		1675	5.3	1.0	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCT	NM_002299.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	559/1928	136574943	1,13005	2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136574943C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1675G>A	2.37:g.136574943C>T	ENSP00000264162:p.Gly559Ser						p.G559S	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1685	-			559			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1675G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377616	0.61735	0.0	1.16E-4	ENSG00000115850	ENST00000264162	T	0.42513	0.97	5.34	5.34	0.76211	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.170325	0.52532	D	0.000071	T	0.55162	0.1903	M	0.72479	2.2	0.39452	D	0.967425	D	0.60160	0.987	P	0.50970	0.655	T	0.55566	-0.8121	10	0.33141	T	0.24	-14.8671	19.4091	0.94662	0.0:1.0:0.0:0.0	.	559	P09848	LPH_HUMAN	S	559	ENSP00000264162:G559S	ENSP00000264162:G559S	G	-	1	0	LCT	136291413	0.963000	0.33076	0.999000	0.59377	0.292000	0.27327	2.229000	0.42990	2.651000	0.90000	0.561000	0.74099	GGC		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		9	57	0	0	0	1	0	9	57				
ZNF443	10224	broad.mit.edu	37	19	12540985	12540985	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12540985A>G	ENST00000301547.5	-	4	2198	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	667					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGTCTTTTTATGTCTATGCA	0.343																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1999-2001)caT>caC		zinc finger protein 443							66.0	70.0	69.0					19																	12540985		2195	4293	6488	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12540985A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.2001T>C	19.37:g.12540985A>G						CTD-3105H18.16_ENST00000595562.1_Intron	p.H667H	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	2198	-			667						Silent	SNP	ENST00000301547.5	37	c.2001T>C	CCDS32918.1																																																																																				0.343	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		10	36	0	0	0	1	0	10	36				
PRM2	5620	broad.mit.edu	37	16	11369998	11369998	+	Missense_Mutation	SNP	C	C	T	rs200756329		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:11369998C>T	ENST00000241808.4	-	1	339	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000435245.2_Missense_Mutation_p.R77H|PRM3_ENST00000327157.2_5'Flank|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	77					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GCGTCTTTTGCGCCTTCTGCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13645	0.001		0.0	False		,,,				2504	0.0					ENST00000435245.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						c.(229-231)cGc>cAc		protamine 2							41.0	43.0	42.0					16																	11369998		2072	4209	6281	SO:0001583	missense	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11369998C>T		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.230G>A	16.37:g.11369998C>T	ENSP00000241808:p.Arg77His					RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.R77H	p.R77H			P04554	PRM2_HUMAN			1	339	-			77					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.230G>A	CCDS42118.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.96	3.515157	0.64634	.	.	ENSG00000122304	ENST00000241808;ENST00000435245	.	.	.	3.44	2.49	0.30216	.	0.000000	0.32719	N	0.005737	T	0.25306	0.0615	L	0.34521	1.04	0.09310	N	0.999997	P;P	0.41848	0.763;0.614	B;B	0.40134	0.32;0.127	T	0.13072	-1.0523	9	0.87932	D	0	-6.095	6.6357	0.22881	0.0:0.8696:0.0:0.1304	.	77;77	Q6ZMM0;P04554	.;PRM2_HUMAN	H	77	.	ENSP00000241808:R77H	R	-	2	0	PRM2	11277499	0.023000	0.18921	0.181000	0.23098	0.131000	0.20780	0.764000	0.26532	1.033000	0.39918	0.491000	0.48974	CGC		0.652	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			11	42	0	0	0	1	0	11	42				
ZNF180	7733	broad.mit.edu	37	19	44981521	44981521	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44981521T>C	ENST00000221327.4	-	5	1458	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.S368G|ZNF180_ENST00000592529.1_Missense_Mutation_p.S366G	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	393					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(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGGTGCGAGCTCCGGCTGAAG	0.453																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1177-1179)Agc>Ggc		zinc finger protein 180							67.0	69.0	68.0					19																	44981521		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981521T>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1177A>G	19.37:g.44981521T>C	ENSP00000221327:p.Ser393Gly					ZNF180_ENST00000391956.4_Missense_Mutation_p.S368G|ZNF180_ENST00000592529.1_Missense_Mutation_p.S366G	p.S393G	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1458	-		Prostate(69;0.0435)	393					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1177A>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	7.741	0.701367	0.15172	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.01192	5.2;5.2	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000112	T	0.02047	0.0064	M	0.69523	2.12	0.28354	N	0.920758	B;B;B	0.27416	0.178;0.111;0.111	B;B;B	0.17722	0.019;0.008;0.008	T	0.32268	-0.9913	10	0.21540	T	0.41	-7.9646	14.5283	0.67905	0.0:0.0:0.0:1.0	.	368;392;393	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	G	393;368	ENSP00000221327:S393G;ENSP00000375818:S368G	ENSP00000221327:S393G	S	-	1	0	ZNF180	49673361	0.000000	0.05858	0.999000	0.59377	0.003000	0.03518	0.297000	0.19101	2.059000	0.61396	0.533000	0.62120	AGC		0.453	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		5	46	0	0	0	1	0	5	46				
THRA	7067	broad.mit.edu	37	17	38249345	38249345	+	Missense_Mutation	SNP	G	G	A	rs199759695		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38249345G>A	ENST00000264637.4	+	10	1763	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	THRA_ENST00000394121.4_Missense_Mutation_p.V395I|NR1D1_ENST00000246672.3_Silent_p.D612D|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	395					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCACTGGGCGTCCACCCGGA	0.592																																						ENST00000264637.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1183-1185)Gtc>Atc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)	G	,,ILE/VAL,ILE/VAL	0,4406		0,0,2203	49.0	52.0	51.0		,1836,1183,1183	4.0	1.0	17		51	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,missense,missense	THRA,NR1D1	NM_001190918.1,NM_021724.3,NM_003250.5,NM_001190919.1	,,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,benign,benign	,612/615,395/491,395/491	38249345	1,13005	2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38249345G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1183G>A	17.37:g.38249345G>A	ENSP00000264637:p.Val395Ile					THRA_ENST00000584985.1_Intron|NR1D1_ENST00000246672.3_Silent_p.D612D|THRA_ENST00000394121.4_Missense_Mutation_p.V395I	p.V395I	NM_003250.5	NP_003241.2	P10827	THA_HUMAN			10	1763	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	395					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1183G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419551	0.25552	0.0	1.16E-4	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.92699	-3.09;-3.09	5.05	4.02	0.46733	.	.	.	.	.	T	0.80607	0.4655	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.75405	-0.3329	9	0.49607	T	0.09	.	5.0192	0.14352	0.2556:0.0:0.7444:0.0	.	395	P10827	THA_HUMAN	I	395	ENSP00000377679:V395I;ENSP00000264637:V395I	ENSP00000264637:V395I	V	+	1	0	THRA	35502871	0.926000	0.31397	1.000000	0.80357	0.998000	0.95712	0.337000	0.19841	2.618000	0.88619	0.563000	0.77884	GTC		0.592	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	56	0	0	0	1	0	5	56				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|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	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	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.chr9:21971120G>A	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.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	p.R80*	NM_000077.4	NP_000068.1	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	508	-		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)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	15	0	0	0	1	0	10	15				
C6orf222	389384	broad.mit.edu	37	6	36298375	36298375	+	Silent	SNP	C	C	T	rs200818361		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36298375C>T	ENST00000437635.2	-	2	270	c.93G>A	c.(91-93)tcG>tcA	p.S31S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	31										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGTCCCACGACTCCGAGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13195	0.0		0.0	False		,,,				2504	0.001					ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(91-93)tcG>tcA		chromosome 6 open reading frame 222							50.0	56.0	54.0					6																	36298375		2202	4300	6502	SO:0001819	synonymous_variant	389384							g.chr6:36298375C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.93G>A	6.37:g.36298375C>T							p.S31S	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	270	-			31					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.93G>A	CCDS34439.1																																																																																				0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		6	105	0	0	0	1	0	6	105				
OLFML2A	169611	broad.mit.edu	37	9	127549357	127549357	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:127549357G>A	ENST00000373580.3	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	65					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGCCGAGTGCGCAGTGGGCGG	0.647																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(193-195)cGc>cAc		olfactomedin-like 2A							51.0	58.0	56.0					9																	127549357		2162	4272	6434	SO:0001583	missense	169611							g.chr9:127549357G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.194G>A	9.37:g.127549357G>A	ENSP00000362682:p.Arg65His						p.R65H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	194	+			65					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.194G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585248	0.66105	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.41758	0.99;0.99	5.73	5.73	0.89815	.	0.063522	0.64402	D	0.000020	T	0.61850	0.2380	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.911	T	0.63554	-0.6611	10	0.62326	D	0.03	.	11.8676	0.52503	0.08:0.0:0.92:0.0	.	65;65	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	H	65	ENSP00000336425:R65H;ENSP00000362682:R65H	ENSP00000336425:R65H	R	+	2	0	OLFML2A	126589178	0.999000	0.42202	1.000000	0.80357	0.233000	0.25261	3.731000	0.55013	2.699000	0.92147	0.655000	0.94253	CGC		0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		9	61	0	0	0	1	0	9	61				
GCN1L1	10985	broad.mit.edu	37	12	120587427	120587427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:120587427G>A	ENST00000300648.6	-	36	4541	c.4529C>T	c.(4528-4530)tCg>tTg	p.S1510L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1510					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)					GGTCCGCCACGATTCCTCCTC	0.577																																						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.(4528-4530)tCg>tTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							54.0	58.0	56.0					12																	120587427		2123	4247	6370	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120587427G>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.4529C>T	12.37:g.120587427G>A	ENSP00000300648:p.Ser1510Leu						p.S1510L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			36	4541	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1510					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4529C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490419	0.96339	.	.	ENSG00000089154	ENST00000300648	T	0.20069	2.1	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54886	-0.8226	10	0.72032	D	0.01	.	19.5989	0.95551	0.0:0.0:1.0:0.0	.	1510	Q92616	GCN1L_HUMAN	L	1510	ENSP00000300648:S1510L	ENSP00000300648:S1510L	S	-	2	0	GCN1L1	119071810	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.488000	0.97947	2.639000	0.89480	0.561000	0.74099	TCG		0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			16	62	0	0	0	1	0	16	62				
HOXD3	3232	broad.mit.edu	37	2	177036519	177036519	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:177036519G>A	ENST00000468418.3	+	4	2906	c.816G>A	c.(814-816)ccG>ccA	p.P272P	HOXD3_ENST00000249440.3_Silent_p.P272P|HOXD3_ENST00000410016.1_Silent_p.P272P|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	272					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGCCCACCGCTCGGCGGCG	0.687																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(814-816)ccG>ccA		homeobox D3							22.0	24.0	23.0					2																	177036519		2202	4295	6497	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036519G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.816G>A	2.37:g.177036519G>A						HOXD3_ENST00000410016.1_Silent_p.P272P|HOXD3_ENST00000249440.3_Silent_p.P272P	p.P272P			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2906	+			272					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.816G>A	CCDS2270.1																																																																																				0.687	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			7	49	0	0	0	1	0	7	49				
KAAG1	353219	broad.mit.edu	37	6	24357937	24357937	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:24357937G>A	ENST00000274766.1	+	1	807	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	DCDC2_ENST00000378454.3_Silent_p.P14P	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	24					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCACGACGGGCTGAGACA	0.667																																						ENST00000274766.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(70-72)Ggg>Agg		kidney associated antigen 1							38.0	39.0	39.0					6																	24357937		2203	4299	6502	SO:0001583	missense	353219				immune response			g.chr6:24357937G>A	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.70G>A	6.37:g.24357937G>A	ENSP00000274766:p.Gly24Arg					DCDC2_ENST00000378454.3_Silent_p.P14P	p.G24R	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN			1	807	+			24						Missense_Mutation	SNP	ENST00000274766.1	37	c.70G>A	CCDS4551.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508692	0.44660	.	.	ENSG00000146049	ENST00000274766	.	.	.	5.33	-2.08	0.07254	.	.	.	.	.	T	0.10594	0.0259	.	.	.	0.23510	N	0.997527	B	0.13594	0.008	B	0.09377	0.004	T	0.33085	-0.9882	7	0.87932	D	0	-6.4495	2.2731	0.04095	0.1897:0.2278:0.3907:0.1919	.	24	Q9UBP8	KAAG1_HUMAN	R	24	.	ENSP00000274766:G24R	G	+	1	0	KAAG1	24465916	0.016000	0.18221	0.996000	0.52242	0.947000	0.59692	-0.971000	0.03806	-0.065000	0.13021	-1.319000	0.01295	GGG		0.667	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			12	73	0	0	0	1	0	12	73				
INTS1	26173	broad.mit.edu	37	7	1527550	1527550	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:1527550G>A	ENST00000404767.3	-	19	2447	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W	INTS1_ENST00000389470.4_Missense_Mutation_p.R916W	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	788					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCTCCGTCCGGGTCTCCTCA	0.667																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(2746-2748)Cgg>Tgg		integrator complex subunit 1							111.0	126.0	121.0					7																	1527550		2123	4238	6361	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527550G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2362C>T	7.37:g.1527550G>A	ENSP00000385722:p.Arg788Trp					INTS1_ENST00000404767.3_Missense_Mutation_p.R788W	p.R916W			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	20	2745	-		Ovarian(82;0.0253)	788					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2746C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094298	0.56075	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47177	0.86;0.85	4.74	3.83	0.44106	.	0.064498	0.64402	D	0.000009	T	0.50360	0.1611	L	0.29908	0.895	0.41325	D	0.987207	D;D	0.76494	0.997;0.999	P;P	0.58970	0.776;0.849	T	0.53107	-0.8485	10	0.66056	D	0.02	.	11.8231	0.52250	0.0:0.0:0.6703:0.3297	.	916;788	A4D213;Q8N201	.;INT1_HUMAN	W	788;916	ENSP00000385722:R788W;ENSP00000374121:R916W	ENSP00000374121:R916W	R	-	1	2	INTS1	1494076	1.000000	0.71417	0.129000	0.21949	0.476000	0.33039	4.459000	0.60102	0.928000	0.37168	0.561000	0.74099	CGG		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			33	145	0	0	0	1	0	33	145				
GMPR	2766	broad.mit.edu	37	6	16254791	16254791	+	Splice_Site	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16254791A>G	ENST00000259727.4	+	4	405		c.e4-1			NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase						nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTTGGTGCAGAATGTAGCC	0.468																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.e4-1		guanosine monophosphate reductase							160.0	151.0	154.0					6																	16254791		2203	4300	6503	SO:0001630	splice_region_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254791A>G		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.292-1A>G	6.37:g.16254791A>G								NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	405	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)						Q96HQ6	Splice_Site	SNP	ENST00000259727.4	37		CCDS4537.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310081	0.60414	.	.	ENSG00000137198	ENST00000259727	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMPR	16362770	1.000000	0.71417	0.878000	0.34440	0.474000	0.32979	8.940000	0.92958	2.146000	0.66826	0.533000	0.62120	.		0.468	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2		Intron	7	57	0	0	0	1	0	7	57				
PRKX	5613	broad.mit.edu	37	X	3592735	3592735	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:3592735A>G	ENST00000262848.5	-	2	593	c.239T>C	c.(238-240)aTg>aCg	p.M80T		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGGAATGCTCATCACCTTGAG	0.552																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(238-240)aTg>aCg		protein kinase, X-linked							246.0	160.0	189.0					X																	3592735		2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3592735A>G		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.239T>C	X.37:g.3592735A>G	ENSP00000262848:p.Met80Thr						p.M80T	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			2	593	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	80			Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.239T>C	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399606	0.42512	.	.	ENSG00000183943	ENST00000262848	T	0.08102	3.13	2.62	2.62	0.31277	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	U	0.000000	T	0.17492	0.0420	M	0.63843	1.955	0.80722	D	1	D	0.55800	0.973	P	0.55824	0.785	T	0.00653	-1.1625	10	0.87932	D	0	-39.5816	9.1861	0.37172	1.0:0.0:0.0:0.0	.	80	P51817	PRKX_HUMAN	T	80	ENSP00000262848:M80T	ENSP00000262848:M80T	M	-	2	0	PRKX	3602735	1.000000	0.71417	0.914000	0.36105	0.415000	0.31203	7.446000	0.80609	0.763000	0.33175	0.229000	0.17801	ATG		0.552	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		19	38	0	0	0	1	0	19	38				
AGO3	192669	broad.mit.edu	37	1	36439077	36439077	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36439077G>A	ENST00000373191.4	+	5	972	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.R208Q|AGO3_ENST00000324350.5_Missense_Mutation_p.R208Q	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	208					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)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CAGTCTGTTCGGCCTGCCATG	0.468																																						ENST00000373191.4																			0											c.(622-624)cGg>cAg		argonaute RISC catalytic component 3							196.0	194.0	195.0					1																	36439077		2203	4300	6503	SO:0001583	missense	192669							g.chr1:36439077G>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.623G>A	1.37:g.36439077G>A	ENSP00000362287:p.Arg208Gln					AGO3_ENST00000397828.2_Missense_Mutation_p.R208Q|AGO3_ENST00000324350.5_Missense_Mutation_p.R208Q|AGO3_ENST00000246314.6_Intron	p.R208Q	NM_024852.3	NP_079128.2					5	972	+								B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.623G>A	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393843	0.96009	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T;T;T	0.15487	2.59;2.42;2.59	5.62	4.71	0.59529	Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72338	0.959;0.977	T	0.68992	-0.5263	10	0.72032	D	0.01	-15.7954	14.2749	0.66173	0.0712:0.0:0.9288:0.0	.	208;208	Q9H9G7;Q5TA56	AGO3_HUMAN;.	Q	208	ENSP00000317425:R208Q;ENSP00000362287:R208Q;ENSP00000380928:R208Q	ENSP00000317425:R208Q	R	+	2	0	EIF2C3	36211664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.381000	0.46364	0.563000	0.77884	CGG		0.468	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		24	138	0	0	0	1	0	24	138				
ALS2CL	259173	broad.mit.edu	37	3	46721968	46721968	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:46721968G>A	ENST00000318962.4	-	14	1583	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	ALS2CL_ENST00000415953.1_Silent_p.T500T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	500					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CACCTGCCTGGGTGACCATGA	0.617																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1498-1500)acC>acT		ALS2 C-terminal like							103.0	95.0	98.0					3																	46721968		2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46721968G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1500C>T	3.37:g.46721968G>A						ALS2CL_ENST00000415953.1_Silent_p.T500T	p.T500T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	14	1583	-			500					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.1500C>T	CCDS2743.1																																																																																				0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		17	111	0	0	0	1	0	17	111				
AHRR	57491	broad.mit.edu	37	5	428070	428070	+	Missense_Mutation	SNP	C	C	T	rs201183475	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:428070C>T	ENST00000505113.1	+	8	913	c.869C>T	c.(868-870)gCg>gTg	p.A290V	AHRR_ENST00000506456.1_Missense_Mutation_p.A146V|AHRR_ENST00000316418.5_Missense_Mutation_p.A308V|AHRR_ENST00000512529.1_Missense_Mutation_p.A136V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	290					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGAGGAGCGCGCTCCTGAGG	0.652													c|||	2	0.000399361	0.0015	0.0	5008	,	,		16068	0.0		0.0	False		,,,				2504	0.0					ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(922-924)gCg>gTg		aryl-hydrocarbon receptor repressor			VAL/ALA,VAL/ALA	3,4051		0,3,2024	26.0	31.0	30.0		869,923	1.6	0.0	5		30	0,8346		0,0,4173	yes	missense,missense	AHRR	NM_001242412.1,NM_020731.4	64,64	0,3,6197	TT,TC,CC		0.0,0.074,0.0242	benign,benign	290/702,308/720	428070	3,12397	2027	4173	6200	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428070C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.869C>T	5.37:g.428070C>T	ENSP00000424601:p.Ala290Val					AHRR_ENST00000506456.1_Missense_Mutation_p.A146V|AHRR_ENST00000505113.1_Missense_Mutation_p.A290V|AHRR_ENST00000512529.1_Missense_Mutation_p.A136V	p.A308V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	967	+			290					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.923C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	c	2.826	-0.243746	0.05906	7.4E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.41065	2.41;2.42;2.1;2.09;1.01	4.88	1.61	0.23674	.	0.622040	0.17753	N	0.163167	T	0.17959	0.0431	N	0.17379	0.485	0.09310	N	1	B;B;B	0.30021	0.102;0.088;0.265	B;B;B	0.24006	0.013;0.022;0.05	T	0.22312	-1.0220	10	0.06757	T	0.87	.	5.4364	0.16484	0.0:0.4707:0.0:0.5293	.	146;290;308	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	290;308;136;146;13	ENSP00000424601:A290V;ENSP00000323816:A308V;ENSP00000424880:A136V;ENSP00000426932:A146V;ENSP00000426076:A13V	ENSP00000323816:A308V	A	+	2	0	AHRR	481070	0.038000	0.19896	0.000000	0.03702	0.002000	0.02628	2.628000	0.46477	0.474000	0.27392	0.580000	0.79431	GCG		0.652	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		5	27	0	0	0	1	0	5	27				
SLC39A7	7922	broad.mit.edu	37	6	33171401	33171401	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33171401C>T	ENST00000374677.3	+	7	1594	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.G407G|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	407				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGCAGTGGGCAGTGAAATTG	0.567																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1219-1221)ggC>ggT		solute carrier family 39 (zinc transporter), member 7							96.0	100.0	99.0					6																	33171401		2061	4189	6250	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171401C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1221C>T	6.37:g.33171401C>T						SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Silent_p.G407G	p.G407G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			7	1594	+			407	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.1221C>T	CCDS43453.1																																																																																				0.567	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		5	77	0	0	0	1	0	5	77				
AATF	26574	broad.mit.edu	37	17	35345870	35345870	+	Nonsense_Mutation	SNP	C	C	T	rs200484699		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:35345870C>T	ENST00000225402.5	+	6	1251	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	334	RB1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GAAGCAGCAACGAAGAAGGGT	0.448																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(1000-1002)Cga>Tga		apoptosis antagonizing transcription factor		C	stop/ARG	0,4406		0,0,2203	73.0	73.0	73.0		1000	1.3	0.2	17		73	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	AATF	NM_012138.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		334/561	35345870	2,13004	2203	4300	6503	SO:0001587	stop_gained	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35345870C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1000C>T	17.37:g.35345870C>T	ENSP00000225402:p.Arg334*						p.R334*	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			6	1251	+		Breast(25;0.00607)	334			RB1 binding.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Nonsense_Mutation	SNP	ENST00000225402.5	37	c.1000C>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786142	0.49997	0.0	2.33E-4	ENSG00000108270	ENST00000225402	.	.	.	1.28	1.28	0.21552	.	0.511548	0.22782	N	0.055716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	6.3191	0.21206	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000225402:R334X	R	+	1	2	AATF	32419983	0.828000	0.29307	0.224000	0.23877	0.016000	0.09150	0.441000	0.21611	0.556000	0.29098	0.561000	0.74099	CGA		0.448	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		4	37	0	0	0	1	0	4	37				
TTI1	9675	broad.mit.edu	37	20	36634623	36634623	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:36634623C>T	ENST00000373448.2	-	4	2717	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	TTI1_ENST00000373447.3_Missense_Mutation_p.V827I|TTI1_ENST00000449821.1_Missense_Mutation_p.V827I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	827					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAATCCGAGACATTTCCATCT	0.388																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2479-2481)Gtc>Atc		TELO2 interacting protein 1							242.0	228.0	233.0					20																	36634623		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36634623C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2479G>A	20.37:g.36634623C>T	ENSP00000362547:p.Val827Ile					TTI1_ENST00000373447.3_Missense_Mutation_p.V827I|TTI1_ENST00000449821.1_Missense_Mutation_p.V827I	p.V827I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			4	2717	-			827					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2479G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916985	0.33815	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.14022	2.54;2.54;2.54	5.32	3.41	0.39046	Armadillo-type fold (1);	0.172065	0.50627	D	0.000109	T	0.12561	0.0305	L	0.53249	1.67	0.29734	N	0.837641	B	0.27140	0.169	B	0.24394	0.053	T	0.08848	-1.0702	10	0.34782	T	0.22	-13.9906	7.9497	0.30008	0.0:0.8175:0.0:0.1825	.	827	O43156	TTI1_HUMAN	I	827	ENSP00000362547:V827I;ENSP00000362546:V827I;ENSP00000407270:V827I	ENSP00000362546:V827I	V	-	1	0	TTI1	36068037	1.000000	0.71417	0.985000	0.45067	0.942000	0.58702	0.816000	0.27267	0.818000	0.34468	0.557000	0.71058	GTC		0.388	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		12	94	0	0	0	1	0	12	94				
ZFYVE26	23503	broad.mit.edu	37	14	68232984	68232984	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:68232984C>T	ENST00000347230.4	-	32	6109	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1991I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1991					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCGGCTTTGACGAACATCATC	0.547																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5971-5973)Gtc>Atc		zinc finger, FYVE domain containing 26							68.0	70.0	69.0					14																	68232984		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68232984C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5971G>A	14.37:g.68232984C>T	ENSP00000251119:p.Val1991Ile					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1991I	p.V1991I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	32	6109	-			1991					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5971G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823664	0.90873	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29397	1.72;1.57	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.43152	1.355	0.49483	D	0.999793	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.32481	-0.9905	10	0.41790	T	0.15	-21.217	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1991;1991	G3V2D8;Q68DK2	.;ZFY26_HUMAN	I	1991;1970;1991	ENSP00000251119:V1991I;ENSP00000450603:V1991I	ENSP00000251119:V1991I	V	-	1	0	ZFYVE26	67302737	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.876000	0.69667	2.704000	0.92352	0.555000	0.69702	GTC		0.547	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		22	69	0	0	0	1	0	22	69				
GABBR2	9568	broad.mit.edu	37	9	101258793	101258793	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:101258793G>A	ENST00000259455.2	-	4	1093	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	212					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGTCATTCCGCACCTGTCAG	0.547																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(634-636)Cgg>Tgg		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						100.0	88.0	92.0					9																	101258793		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101258793G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.634C>T	9.37:g.101258793G>A	ENSP00000259455:p.Arg212Trp					GABBR2_ENST00000477471.1_5'UTR	p.R212W	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			4	1093	-		Acute lymphoblastic leukemia(62;0.0527)	212					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.634C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432521	0.62844	.	.	ENSG00000136928	ENST00000259455	D	0.82711	-1.64	5.79	4.66	0.58398	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.84248	0.0476	10	0.41790	T	0.15	-11.185	11.2463	0.48998	0.0:0.0:0.1612:0.8388	.	212	O75899	GABR2_HUMAN	W	212	ENSP00000259455:R212W	ENSP00000259455:R212W	R	-	1	2	GABBR2	100298614	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.746000	0.47467	1.032000	0.39892	-0.521000	0.04368	CGG		0.547	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			5	28	0	0	0	1	0	5	28				
SEMA4F	10505	broad.mit.edu	37	2	74906752	74906752	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74906752G>A	ENST00000357877.2	+	14	1878	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	SEMA4F_ENST00000339773.5_Missense_Mutation_p.V422M|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	577					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGAAGTTCCCGTGGCTACAGC	0.552																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1729-1731)Gtg>Atg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							223.0	203.0	210.0					2																	74906752		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906752G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1729G>A	2.37:g.74906752G>A	ENSP00000350547:p.Val577Met					SEMA4F_ENST00000339773.5_Missense_Mutation_p.V422M|SEMA4F_ENST00000473350.1_3'UTR	p.V577M	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1878	+			577					Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1729G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487020	0.44249	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.27557	1.89;1.66	5.11	5.11	0.69529	.	0.396081	0.21365	N	0.075740	T	0.15435	0.0372	N	0.08118	0	0.39053	D	0.960365	P;P	0.47253	0.769;0.892	B;B	0.35278	0.149;0.199	T	0.11717	-1.0576	10	0.52906	T	0.07	.	14.0425	0.64684	0.0:0.0:1.0:0.0	.	422;577	O95754-2;O95754	.;SEM4F_HUMAN	M	577;422	ENSP00000350547:V577M;ENSP00000342675:V422M	ENSP00000342675:V422M	V	+	1	0	SEMA4F	74760260	1.000000	0.71417	0.977000	0.42913	0.903000	0.53119	3.992000	0.56980	2.376000	0.81061	0.467000	0.42956	GTG		0.552	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		30	193	0	0	0	1	0	30	193				
AP1B1	162	broad.mit.edu	37	22	29754917	29754917	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29754917C>A	ENST00000405198.1	-	4	354	c.323G>T	c.(322-324)cGg>cTg	p.R108L	AP1B1_ENST00000356015.2_Missense_Mutation_p.R108L|AP1B1_ENST00000432560.2_Missense_Mutation_p.R108L|AP1B1_ENST00000357586.2_Missense_Mutation_p.R108L|AP1B1_ENST00000317368.7_Missense_Mutation_p.R108L|AP1B1_ENST00000415447.1_Missense_Mutation_p.R108L|AP1B1_ENST00000402502.1_Missense_Mutation_p.R108L			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	108					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCCATGGTCCGCACTGCCAG	0.622																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(322-324)cGg>cTg		adaptor-related protein complex 1, beta 1 subunit							53.0	41.0	45.0					22																	29754917		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29754917C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.323G>T	22.37:g.29754917C>A	ENSP00000384194:p.Arg108Leu					AP1B1_ENST00000356015.2_Missense_Mutation_p.R108L|AP1B1_ENST00000405198.1_Missense_Mutation_p.R108L|AP1B1_ENST00000402502.1_Missense_Mutation_p.R108L|AP1B1_ENST00000432560.2_Missense_Mutation_p.R108L|AP1B1_ENST00000415447.1_Missense_Mutation_p.R108L|AP1B1_ENST00000317368.7_Missense_Mutation_p.R108L	p.R108L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			5	509	-			108					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.323G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777885	0.96929	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	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	5.75	5.75	0.90469	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;0.998;0.978	D	0.86754	0.1962	10	0.87932	D	0	-25.7893	19.5368	0.95256	0.0:1.0:0.0:0.0	.	108;108;108;108	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	L	108	ENSP00000350199:R108L;ENSP00000348297:R108L;ENSP00000400065:R108L;ENSP00000384194:R108L;ENSP00000319361:R108L;ENSP00000386071:R108L;ENSP00000387612:R108L;ENSP00000400022:R108L	ENSP00000319361:R108L	R	-	2	0	AP1B1	28084917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.738000	0.84966	2.720000	0.93068	0.655000	0.94253	CGG		0.622	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		3	17	1	0	1	1	1	3	17				
SLC12A4	6560	broad.mit.edu	37	16	67981973	67981973	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67981973T>C	ENST00000316341.3	-	14	1978	c.1838A>G	c.(1837-1839)tAc>tGc	p.Y613C	SLC12A4_ENST00000576616.1_Missense_Mutation_p.Y613C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.Y582C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.Y565C|SLC12A4_ENST00000422611.2_Missense_Mutation_p.Y615C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.Y607C	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	613					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTGATAGTACTTGAACCG	0.602																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1843-1845)tAc>tGc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						73.0	77.0	76.0					16																	67981973		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67981973T>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1838A>G	16.37:g.67981973T>C	ENSP00000318557:p.Tyr613Cys					SLC12A4_ENST00000316341.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.Y565C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.Y613C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.Y607C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.Y582C	p.Y615C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	13	1883	-		Ovarian(137;0.192)	613					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1844A>G	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.963685	0.92791	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26	5.82	5.82	0.92795	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.987;0.992;0.997;0.978;0.978;0.987	D	0.99016	1.0816	10	0.87932	D	0	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	615;613;582;607;613;613	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	C	615;582;607;613;613	ENSP00000395983:Y615C;ENSP00000438334:Y582C;ENSP00000445962:Y607C;ENSP00000343374:Y613C;ENSP00000318557:Y613C	ENSP00000318557:Y613C	Y	-	2	0	SLC12A4	66539474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.991000	0.88244	2.234000	0.73211	0.533000	0.62120	TAC		0.602	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		21	126	0	0	0	1	0	21	126				
STK40	83931	broad.mit.edu	37	1	36824360	36824360	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36824360G>A	ENST00000373129.3	-	4	582	c.176C>T	c.(175-177)aCg>aTg	p.T59M	STK40_ENST00000373132.3_Missense_Mutation_p.T59M|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Missense_Mutation_p.T64M|STK40_ENST00000359297.2_Missense_Mutation_p.T59M	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GAAGTCATCCGTGCCATCTTT	0.567																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(175-177)aCg>aTg		serine/threonine kinase 40							181.0	136.0	151.0					1																	36824360		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36824360G>A	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.176C>T	1.37:g.36824360G>A	ENSP00000362221:p.Thr59Met					STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Missense_Mutation_p.T59M|STK40_ENST00000373130.3_Missense_Mutation_p.T64M|STK40_ENST00000373132.3_Missense_Mutation_p.T59M	p.T59M			Q8N2I9	STK40_HUMAN			2	183	-		Myeloproliferative disorder(586;0.0393)	59			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.176C>T	CCDS407.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230748	0.95207	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.89664	0.3879	10	0.87932	D	0	-12.3353	19.2091	0.93747	0.0:0.0:1.0:0.0	.	59;64;59	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	M	59;59;64;59	ENSP00000362221:T59M;ENSP00000352245:T59M;ENSP00000362222:T64M;ENSP00000362224:T59M	ENSP00000352245:T59M	T	-	2	0	STK40	36596947	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	9.765000	0.98953	2.792000	0.96026	0.555000	0.69702	ACG		0.567	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		8	36	0	0	0	1	0	8	36				
TRIM36	55521	broad.mit.edu	37	5	114466495	114466495	+	Silent	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:114466495T>A	ENST00000282369.3	-	9	1747	c.1626A>T	c.(1624-1626)ggA>ggT	p.G542G	TRIM36_ENST00000513154.1_Silent_p.G530G|TRIM36_ENST00000514154.1_Silent_p.G387G	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	542	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGATTAAATCCAGCTCTAC	0.398																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1588-1590)ggA>ggT		tripartite motif containing 36							142.0	136.0	138.0					5																	114466495		2202	4300	6502	SO:0001819	synonymous_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466495T>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1626A>T	5.37:g.114466495T>A						TRIM36_ENST00000514154.1_Silent_p.G387G|TRIM36_ENST00000282369.3_Silent_p.G542G	p.G530G			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	1916	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	542			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	c.1590A>T	CCDS4115.1																																																																																				0.398	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		10	53	0	0	0	1	0	10	53				
ANKRD11	29123	broad.mit.edu	37	16	89337296	89337296	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89337296G>A	ENST00000301030.4	-	12	8195	c.7735C>T	c.(7735-7737)Cgc>Tgc	p.R2579C	AC137932.1_ENST00000602042.1_3'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2579C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2579					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAACGGTCGCGCACTGACTTG	0.597																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7735-7737)Cgc>Tgc		ankyrin repeat domain 11							82.0	65.0	71.0					16																	89337296		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89337296G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7735C>T	16.37:g.89337296G>A	ENSP00000301030:p.Arg2579Cys					AC137932.1_ENST00000602042.1_3'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2579C	p.R2579C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	12	8195	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2579					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7735C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709088	0.68615	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.53857	0.6;0.6	4.53	1.02	0.19986	.	0.000000	0.64402	D	0.000010	T	0.71837	0.3387	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76599	-0.2900	10	0.87932	D	0	.	13.5863	0.61933	0.0:0.0:0.5092:0.4908	.	2579	Q6UB99	ANR11_HUMAN	C	2579	ENSP00000301030:R2579C;ENSP00000367581:R2579C	ENSP00000301030:R2579C	R	-	1	0	ANKRD11	87864797	1.000000	0.71417	0.346000	0.25655	0.897000	0.52465	2.094000	0.41719	0.399000	0.25367	0.484000	0.47621	CGC		0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	26	0	0	0	1	0	6	26				
ZNF835	90485	broad.mit.edu	37	19	57175886	57175886	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:57175886G>A	ENST00000537055.2	-	2	912	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	227					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCCTTGGCGCACTGGGCGC	0.706																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(679-681)tgC>tgT		zinc finger protein 835							28.0	27.0	27.0					19																	57175886		2203	4298	6501	SO:0001819	synonymous_variant	90485							g.chr19:57175886G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.681C>T	19.37:g.57175886G>A							p.C227C	NM_001005850.2	NP_001005850.2					2	912	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.681C>T	CCDS56105.1																																																																																				0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		12	20	0	0	0	1	0	12	20				
SNX31	169166	broad.mit.edu	37	8	101661556	101661556	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101661556G>A	ENST00000311812.2	-	2	237	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	29	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGAGGAACCCGTCCAGGTGCA	0.627																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(85-87)gaC>gaT		sorting nexin 31							69.0	67.0	68.0					8																	101661556		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661556G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.87C>T	8.37:g.101661556G>A							p.D29D	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		2	237	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		29			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.87C>T	CCDS6288.1																																																																																				0.627	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		6	51	0	0	0	1	0	6	51				
FER1L6	654463	broad.mit.edu	37	8	124988246	124988246	+	Silent	SNP	G	G	A	rs368591561		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:124988246G>A	ENST00000522917.1	+	9	998	c.792G>A	c.(790-792)gcG>gcA	p.A264A	FER1L6_ENST00000399018.1_Silent_p.A264A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	264	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCATCATGGCGAACGTCACCA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17329	0.001		0.0	False		,,,				2504	0.0					ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(790-792)gcG>gcA		fer-1-like 6 (C. elegans)		G		0,3978		0,0,1989	207.0	200.0	202.0		792	-7.8	0.5	8		202	1,8325		0,1,4162	no	coding-synonymous	FER1L6	NM_001039112.2		0,1,6151	AA,AG,GG		0.012,0.0,0.0081		264/1858	124988246	1,12303	1989	4163	6152	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:124988246G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.792G>A	8.37:g.124988246G>A						FER1L6_ENST00000399018.1_Silent_p.A264A	p.A264A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		9	998	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		264			C2 2.			Silent	SNP	ENST00000522917.1	37	c.792G>A	CCDS43767.1																																																																																				0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		27	126	0	0	0	1	0	27	126				
TRRAP	8295	broad.mit.edu	37	7	98608824	98608824	+	Silent	SNP	G	G	A	rs200919131	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98608824G>A	ENST00000359863.4	+	70	11255	c.11046G>A	c.(11044-11046)gcG>gcA	p.A3682A	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Silent_p.A3671A|TRRAP_ENST00000355540.3_Silent_p.A3653A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3682	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGCTTCGCGGAATTCGTCC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		19375	0.002		0.0	False		,,,				2504	0.0					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11044-11046)gcG>gcA		transformation/transcription domain-associated protein		G		1,4405	2.1+/-5.4	0,1,2202	123.0	115.0	118.0		10959	-11.1	0.0	7		118	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3653/3831	98608824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608824G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11046G>A	7.37:g.98608824G>A						TRRAP_ENST00000355540.3_Silent_p.A3653A|TRRAP_ENST00000446306.3_Silent_p.A3671A	p.A3682A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11255	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3682			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.11046G>A	CCDS59066.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.704	0.498573	0.12762	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.41442	0.1159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59674	-0.7410	4	.	.	.	.	4.7092	0.12865	0.1779:0.4175:0.2672:0.1374	.	.	.	.	Q	3411	.	.	R	+	2	0	TRRAP	98446760	0.000000	0.05858	0.004000	0.12327	0.815000	0.46073	-1.989000	0.01480	-4.821000	0.00030	-1.193000	0.01689	CGG		0.537	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		15	85	0	0	0	1	0	15	85				
CYP4X1	260293	broad.mit.edu	37	1	47505158	47505158	+	Missense_Mutation	SNP	C	C	T	rs151115170		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47505158C>T	ENST00000371901.3	+	8	1277	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R342W|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	343						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGAGAGATGCCGGGAGGAGGT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		15115	0.0		0.0	False		,,,				2504	0.001					ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1027-1029)Cgg>Tgg		cytochrome P450, family 4, subfamily X, polypeptide 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	67.0	67.0		1027	4.2	1.0	1	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP4X1	NM_178033.1	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	343/510	47505158	2,13004	2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47505158C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1027C>T	1.37:g.47505158C>T	ENSP00000360968:p.Arg343Trp					CYP4X1_ENST00000538609.1_Missense_Mutation_p.R342W|CYP4X1_ENST00000466294.1_3'UTR	p.R343W	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			8	1277	+			343					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1027C>T	CCDS544.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070349	0.76301	2.27E-4	1.16E-4	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.73258	-0.6;-0.73	5.14	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.83774	2.66	0.53688	D	0.999979	D;P	0.55800	0.973;0.926	P;P	0.54270	0.747;0.447	D	0.83883	0.0280	10	0.87932	D	0	.	13.7627	0.62977	0.2423:0.7577:0.0:0.0	.	343;342	Q8N118;G3V1U1	CP4X1_HUMAN;.	W	342;343	ENSP00000445965:R342W;ENSP00000360968:R343W	ENSP00000360968:R343W	R	+	1	2	CYP4X1	47277745	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.369000	0.44231	2.667000	0.90743	0.563000	0.77884	CGG		0.522	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		6	42	0	0	0	1	0	6	42				
ABCB5	340273	broad.mit.edu	37	7	20668422	20668422	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20668422G>A	ENST00000404938.2	+	4	872	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	74	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGAAATGAGTGATAACCTTAT	0.393																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(220-222)Gat>Aat		ATP-binding cassette, sub-family B (MDR/TAP), member 5							149.0	127.0	134.0					7																	20668422		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20668422G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.220G>A	7.37:g.20668422G>A	ENSP00000384881:p.Asp74Asn						p.D74N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			4	872	+			271			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.220G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200927	0.58234	.	.	ENSG00000004846	ENST00000404938	D	0.84516	-1.86	4.29	4.29	0.51040	.	.	.	.	.	T	0.75568	0.3867	N	0.21373	0.66	0.80722	D	1	P	0.35894	0.526	B	0.38616	0.277	T	0.71224	-0.4656	9	0.13470	T	0.59	.	12.9824	0.58572	0.0:0.0:1.0:0.0	.	74	A7BKA4	.	N	74	ENSP00000384881:D74N	ENSP00000384881:D74N	D	+	1	0	ABCB5	20634947	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.069000	0.50026	2.333000	0.79357	0.460000	0.39030	GAT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		4	16	0	0	0	1	0	4	16				
TTLL5	23093	broad.mit.edu	37	14	76241900	76241900	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:76241900G>A	ENST00000298832.9	+	22	2415	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R246Q|TTLL5_ENST00000556893.1_Missense_Mutation_p.R288Q|TTLL5_ENST00000557636.1_Missense_Mutation_p.R751Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					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)		TTACCCAGTCGACGATTGGCA	0.448																																						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.(2209-2211)cGa>cAa		tubulin tyrosine ligase-like family, member 5							155.0	145.0	148.0					14																	76241900		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76241900G>A	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.2210G>A	14.37:g.76241900G>A	ENSP00000298832:p.Arg737Gln					TTLL5_ENST00000556893.1_Missense_Mutation_p.R288Q|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R246Q|TTLL5_ENST00000557636.1_Missense_Mutation_p.R751Q	p.R737Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	22	2415	+			737					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.2210G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737751	0.89573	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27720	3.81;3.89;1.66;1.65	5.47	5.47	0.80525	.	0.139441	0.50627	D	0.000111	T	0.52370	0.1730	L	0.53249	1.67	0.39850	D	0.973226	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.997;0.918;0.992	T	0.49214	-0.8963	10	0.48119	T	0.1	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	751;288;737	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	Q	424;751;737;288;288;246	ENSP00000450713:R751Q;ENSP00000298832:R737Q;ENSP00000452524:R288Q;ENSP00000451946:R246Q	ENSP00000298832:R737Q	R	+	2	0	TTLL5	75311653	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	3.912000	0.56386	2.723000	0.93209	0.655000	0.94253	CGA		0.448	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		14	66	0	0	0	1	0	14	66				
SLC5A9	200010	broad.mit.edu	37	1	48694826	48694826	+	Intron	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:48694826G>A	ENST00000438567.2	+	4	391				SLC5A9_ENST00000236495.5_Missense_Mutation_p.G131R|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaggtcacacgggaggactgg	0.532																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(391-393)Ggg>Agg		solute carrier family 5 (sodium/sugar cotransporter), member 9							142.0	152.0	149.0					1																	48694826		2203	4300	6503	SO:0001627	intron_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694826G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.340-141G>A	1.37:g.48694826G>A						SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	p.G131R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			4	441	+			113					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.391G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	9.321	1.058156	0.19987	.	.	ENSG00000117834	ENST00000533824;ENST00000236495	D;D	0.87571	-2.27;-2.24	3.79	-2.15	0.07102	.	15.737400	0.00166	N	0.000000	T	0.71126	0.3303	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60905	-0.7170	10	0.15952	T	0.53	.	3.9455	0.09346	0.441:0.199:0.3599:0.0	.	131;131	E9PJ08;E9PAK4	.;.	R	131	ENSP00000431900:G131R;ENSP00000236495:G131R	ENSP00000236495:G131R	G	+	1	0	SLC5A9	48467413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.013000	0.13310	-0.291000	0.09012	-0.459000	0.05422	GGG		0.532	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		23	134	0	0	0	1	0	23	134				
MYLK	4638	broad.mit.edu	37	3	123426765	123426765	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:123426765G>A	ENST00000475616.1	-	13	2225	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C|MYLK_ENST00000360772.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C			Q15746	MYLK_HUMAN	myosin light chain kinase	742	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTATGGCGCAGGAGATGA	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2224-2226)tgC>tgT		myosin light chain kinase							58.0	50.0	53.0					3																	123426765		2203	4299	6502	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123426765G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2226C>T	3.37:g.123426765G>A						MYLK_ENST00000475616.1_Silent_p.C742C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C	p.C742C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	17	2604	-		Lung NSC(201;0.0496)	742			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2226C>T	CCDS46896.1																																																																																				0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	30	0	0	0	1	0	9	30				
CABP7	164633	broad.mit.edu	37	22	30125184	30125184	+	Silent	SNP	C	C	A	rs569823731		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:30125184C>A	ENST00000216144.3	+	4	848	c.507C>A	c.(505-507)ccC>ccA	p.P169P		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			AGGAGTGTCCCGTGGATGTGG	0.637																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.(505-507)ccC>ccA		calcium binding protein 7																																				SO:0001819	synonymous_variant	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30125184C>A	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.507C>A	22.37:g.30125184C>A							p.P169P	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		4	848	+			169						Silent	SNP	ENST00000216144.3	37	c.507C>A	CCDS13867.1																																																																																				0.637	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		3	14	1	0	2.56e-06	1	2.5957e-06	3	14				
LGI3	203190	broad.mit.edu	37	8	22006441	22006441	+	Silent	SNP	G	G	A	rs564844564		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22006441G>A	ENST00000306317.2	-	8	1168	c.879C>T	c.(877-879)taC>taT	p.Y293Y	LGI3_ENST00000424267.2_Silent_p.Y269Y	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	293					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACGACCACGTACAGCTGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		20201	0.0		0.001	False		,,,				2504	0.0					ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(877-879)taC>taT		leucine-rich repeat LGI family, member 3							52.0	46.0	48.0					8																	22006441		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006441G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.879C>T	8.37:g.22006441G>A						LGI3_ENST00000424267.2_Silent_p.Y269Y	p.Y293Y	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1168	-			293					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.879C>T	CCDS6025.1																																																																																				0.637	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			3	29	0	0	0	1	0	3	29				
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					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)	CTACAACTTCCGGTGGTACAC	0.547																																						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.(2257-2259)Cgg>Tgg		insulin-like growth factor 2 receptor		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	100.0		2257	4.2	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	753/2492	160468851	2,13004	2203	4300	6503	SO:0001583	missense	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.chr6:160468851C>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.2257C>T	6.37:g.160468851C>T	ENSP00000349437:p.Arg753Trp						p.R753W	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)	17	2405	+		Breast(66;0.000777)|Ovarian(120;0.0305)	753					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2257C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234134	0.79688	2.27E-4	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02197	4.4	5.14	4.18	0.49190	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.08313	0.0207	M	0.84948	2.725	0.39940	D	0.974391	D	0.89917	1.0	D	0.77557	0.99	T	0.00380	-1.1776	10	0.87932	D	0	-11.437	12.4594	0.55723	0.2959:0.7041:0.0:0.0	.	753	P11717	MPRI_HUMAN	W	753	ENSP00000349437:R753W	ENSP00000349437:R753W	R	+	1	2	IGF2R	160388841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.976000	0.56867	2.407000	0.81776	0.561000	0.74099	CGG		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	85	0	0	0	1	0	24	85				
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:57422471C>T	ENST00000371237.4	-	3	428	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000543257.1_Missense_Mutation_p.R69Q	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	121	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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						GCCTTCACATCGCACTTGACT	0.483																																						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.(205-207)cGa>cAa		complement component 8, beta polypeptide							384.0	364.0	370.0					1																	57422471		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422471C>T	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.362G>A	1.37:g.57422471C>T	ENSP00000360281:p.Arg121Gln					C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000371237.4_Missense_Mutation_p.R121Q	p.R69Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	772	-			121			TSP type-1 1.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.206G>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205199	0.58234	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.26660	1.89;1.91;1.72	5.41	0.924	0.19418	.	0.881848	0.09891	N	0.742380	T	0.19805	0.0476	N	0.10685	0.025	0.27071	N	0.963312	D;D;D	0.71674	0.995;0.995;0.998	P;P;P	0.59825	0.56;0.726;0.864	T	0.15809	-1.0424	10	0.10902	T	0.67	-2.2437	6.6327	0.22865	0.0:0.5496:0.1589:0.2915	.	69;59;121	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Q	121;69;59	ENSP00000360281:R121Q;ENSP00000442548:R69Q;ENSP00000440113:R59Q	ENSP00000360281:R121Q	R	-	2	0	C8B	57195059	0.027000	0.19231	0.998000	0.56505	0.997000	0.91878	0.094000	0.15107	0.362000	0.24319	0.650000	0.86243	CGA		0.483	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			49	255	0	0	0	1	0	49	255				
CHRNE	1145	broad.mit.edu	37	17	4805274	4805274	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:4805274C>A	ENST00000293780.4	-	5	463	c.453G>T	c.(451-453)gaG>gaT	p.E151D	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	151					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	AGTAGGTGACCTCCACTGCGC	0.617																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(451-453)gaG>gaT		cholinergic receptor, nicotinic, epsilon (muscle)							63.0	62.0	62.0					17																	4805274		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805274C>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.453G>T	17.37:g.4805274C>A	ENSP00000293780:p.Glu151Asp					CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	p.E151D	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			5	463	-			151					D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.453G>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025699	0.75390	.	.	ENSG00000108556	ENST00000293780	T	0.73681	-0.77	4.78	1.64	0.23874	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	N	0.03967	-0.31	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.63457	-0.6633	10	0.38643	T	0.18	.	8.5491	0.33440	0.0:0.7315:0.0:0.2685	.	151	Q04844	ACHE_HUMAN	D	151	ENSP00000293780:E151D	ENSP00000293780:E151D	E	-	3	2	CHRNE	4746053	0.292000	0.24362	1.000000	0.80357	0.974000	0.67602	-0.389000	0.07342	0.637000	0.30526	0.561000	0.74099	GAG		0.617	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			16	62	1	0	1.5739e-10	1	1.61613e-10	16	62				
PMFBP1	83449	broad.mit.edu	37	16	72157464	72157464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72157464G>A	ENST00000537792.1	-	2	171	c.172C>T	c.(172-174)Caa>Taa	p.Q58*	PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.Q897*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q747*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q892*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	897						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTGCCCATTGCTCCAAGTTG	0.547																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2689-2691)Caa>Taa		polyamine modulated factor 1 binding protein 1							121.0	102.0	108.0					16																	72157464		2198	4300	6498	SO:0001587	stop_gained	83449							g.chr16:72157464G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.172C>T	16.37:g.72157464G>A	ENSP00000443366:p.Gln58*					PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.Q58*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q892*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q747*	p.Q897*			Q8TBY8	PMFBP_HUMAN			18	2847	-		Ovarian(137;0.179)	897					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000537792.1	37	c.2689C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.139431	0.99345	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	4.95	4.95	0.65309	.	0.000000	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-18.1161	13.5707	0.61845	0.0:0.0:1.0:0.0	.	.	.	.	X	58;897;892;747	.	ENSP00000237353:Q892X	Q	-	1	0	PMFBP1	70714965	0.998000	0.40836	1.000000	0.80357	0.531000	0.34715	4.235000	0.58666	2.583000	0.87209	0.650000	0.86243	CAA		0.547	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		5	33	0	0	0	1	0	5	33				
DSG2	1829	broad.mit.edu	37	18	29099850	29099850	+	Missense_Mutation	SNP	G	G	A	rs121913013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:29099850G>A	ENST00000261590.8	+	3	375	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	DSG2_ENST00000585206.1_Missense_Mutation_p.V56M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy; dbSNP:rs121913013). {ECO:0000269|PubMed:18678517, ECO:0000269|PubMed:20031617}.		apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACCGCCCCCGTGGCTCTTCG	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		16402	0.0		0.001	False		,,,				2504	0.0					ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49	GRCh37	CM070918	DSG2	M	rs121913013	c.(166-168)Gtg>Atg		desmoglein 2		G	MET/VAL	2,3754		0,2,1876	68.0	70.0	70.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	166	5.2	0.2	18	dbSNP_133	70	29,8193		0,29,4082	yes	missense	DSG2	NM_001943.3	21	0,31,5958	AA,AG,GG		0.3527,0.0532,0.2588	probably-damaging	56/1119	29099850	31,11947	1878	4111	5989	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099850G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.166G>A	18.37:g.29099850G>A	ENSP00000261590:p.Val56Met					DSG2_ENST00000585206.1_Missense_Mutation_p.V56M	p.V56M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	375	+			56		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy).	Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.166G>A	CCDS42423.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.81	1.749289	0.30955	5.32E-4	0.003527	ENSG00000046604	ENST00000261590	T	0.59772	0.24	5.21	5.21	0.72293	Cadherin-like (1);	0.217411	0.22550	U	0.058601	T	0.62756	0.2454	L	0.37897	1.145	0.09310	N	0.999998	D	0.71674	0.998	P	0.55965	0.788	T	0.57608	-0.7782	10	0.45353	T	0.12	.	17.299	0.87177	0.0:0.0:1.0:0.0	.	56	Q14126	DSG2_HUMAN	M	56	ENSP00000261590:V56M	ENSP00000261590:V56M	V	+	1	0	DSG2	27353848	1.000000	0.71417	0.156000	0.22583	0.797000	0.45037	6.358000	0.73055	2.589000	0.87451	0.561000	0.74099	GTG		0.443	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		14	30	0	0	0	1	0	14	30				
RUFY1	80230	broad.mit.edu	37	5	179025750	179025750	+	Silent	SNP	C	C	T	rs199910786		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179025750C>T	ENST00000319449.4	+	14	1701	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	RUFY1_ENST00000437570.2_Silent_p.R455R|RUFY1_ENST00000393438.2_Silent_p.R455R|RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	563					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTCAGCGCGAATTACAGC	0.478										HNSCC(44;0.11)			C|||	1	0.000199681	0.0	0.0	5008	,	,		20486	0.0		0.001	False		,,,				2504	0.0					ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1687-1689)cgC>cgT		RUN and FYVE domain containing 1							128.0	126.0	127.0					5																	179025750		2203	4300	6503	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179025750C>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1689C>T	5.37:g.179025750C>T		HNSCC(44;0.11)				RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R455R|RUFY1_ENST00000393438.2_Silent_p.R455R|RP11-1379J22.2_ENST00000500262.1_RNA	p.R563R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1701	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	563					Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.1689C>T	CCDS4445.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.810	0.150517	0.09185	.	.	ENSG00000176783	ENST00000502434	.	.	.	4.98	-0.279	0.12890	.	0.266697	0.36303	N	0.002663	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.5204	1.2934	0.02065	0.4026:0.2601:0.2155:0.1218	.	.	.	.	X	241	.	ENSP00000426117:R241X	R	+	1	2	RUFY1	178958356	0.770000	0.28543	0.957000	0.39632	0.562000	0.35680	-0.067000	0.11579	-0.292000	0.08999	-1.334000	0.01262	CGA		0.478	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		15	99	0	0	0	1	0	15	99				
OR9G1	390174	broad.mit.edu	37	11	56468308	56468308	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56468308T>C	ENST00000312153.1	+	1	445	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGTCTCATATTGTGGTGGCTT	0.453																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(445-447)Tgt>Cgt		olfactory receptor, family 9, subfamily G, member 1							205.0	191.0	196.0					11																	56468308		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468308T>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.445T>C	11.37:g.56468308T>C	ENSP00000309012:p.Cys149Arg						p.C149R	NM_001005213.1	NP_001005213.1					1	445	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.445T>C	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663882	0.03428	.	.	ENSG00000174914	ENST00000312153	T	0.37058	1.22	4.52	-0.00713	0.14010	GPCR, rhodopsin-like superfamily (1);	1.526730	0.03953	N	0.288791	T	0.24774	0.0601	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.32134	-0.9918	10	0.87932	D	0	-4.6341	1.8521	0.03171	0.3421:0.3743:0.1124:0.1713	.	149	Q8NH87	OR9G1_HUMAN	R	149	ENSP00000309012:C149R	ENSP00000309012:C149R	C	+	1	0	OR9G1	56224884	0.000000	0.05858	0.049000	0.19019	0.024000	0.10985	-3.634000	0.00408	0.187000	0.20147	-0.495000	0.04643	TGT		0.453	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		9	116	0	0	0	1	0	9	116				
PDE12	201626	broad.mit.edu	37	3	57545300	57545300	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:57545300C>T	ENST00000311180.8	+	3	1502	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	467					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGGTATATTCGCCTCATTCA	0.328																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1399-1401)Cgc>Tgc		phosphodiesterase 12							65.0	66.0	66.0					3																	57545300		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545300C>T	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1399C>T	3.37:g.57545300C>T	ENSP00000309142:p.Arg467Cys					PDE12_ENST00000487257.1_3'UTR	p.R467C	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	3	1502	+			467					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1399C>T	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180484	0.78677	.	.	ENSG00000174840	ENST00000311180	D	0.98807	-5.15	5.95	5.08	0.68730	Endonuclease/exonuclease/phosphatase (2);	0.045173	0.85682	D	0.000000	D	0.99363	0.9776	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98565	1.0643	10	0.87932	D	0	-15.1408	15.1414	0.72612	0.0:0.9325:0.0:0.0675	.	467	Q6L8Q7	PDE12_HUMAN	C	467	ENSP00000309142:R467C	ENSP00000309142:R467C	R	+	1	0	PDE12	57520340	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.407000	0.80029	1.529000	0.49120	-0.253000	0.11424	CGC		0.328	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		12	25	0	0	0	1	0	12	25				
GPR125	166647	broad.mit.edu	37	4	22389827	22389827	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22389827G>A	ENST00000334304.5	-	19	3736	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1156					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCTAAAGGCGCCACGTGCAT	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3466-3468)gCg>gTg		G protein-coupled receptor 125							73.0	73.0	73.0					4																	22389827		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389827G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3467C>T	4.37:g.22389827G>A	ENSP00000334952:p.Ala1156Val					GPR125_ENST00000282943.5_5'UTR	p.A1156V	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3736	-		Breast(46;0.198)	1156					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3467C>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394883	0.62066	.	.	ENSG00000152990	ENST00000334304	T	0.55052	0.54	5.64	5.64	0.86602	.	0.050514	0.85682	D	0.000000	T	0.50548	0.1622	M	0.62723	1.935	0.80722	D	1	P;D	0.59357	0.8;0.985	B;B	0.38106	0.209;0.265	T	0.53697	-0.8402	10	0.30078	T	0.28	.	19.7052	0.96069	0.0:0.0:1.0:0.0	.	1013;1156	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1156	ENSP00000334952:A1156V	ENSP00000334952:A1156V	A	-	2	0	GPR125	21998925	1.000000	0.71417	0.959000	0.39883	0.710000	0.40934	9.225000	0.95219	2.637000	0.89404	0.650000	0.86243	GCG		0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	50	0	0	0	1	0	5	50				
MKI67	4288	broad.mit.edu	37	10	129910063	129910063	+	Silent	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:129910063A>T	ENST00000368654.3	-	11	2481	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	MKI67_ENST00000368653.3_Silent_p.V342V|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	702					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACTGTGAACTTCGCCCA	0.443																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2104-2106)gtT>gtA		marker of proliferation Ki-67							131.0	127.0	128.0					10																	129910063		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129910063A>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2106T>A	10.37:g.129910063A>T						MKI67_ENST00000368653.3_Silent_p.V342V|MKI67_ENST00000484853.1_5'UTR	p.V702V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			11	2481	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	702					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.2106T>A	CCDS7659.1																																																																																				0.443	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		12	41	0	0	0	1	0	12	41				
KIR3DL1	3811	broad.mit.edu	37	19	55341682	55341682	+	Silent	SNP	G	G	A	rs370004726	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55341682G>A	ENST00000391728.4	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000541392.1_Silent_p.T412T|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Silent_p.T334T|KIR3DL1_ENST00000538269.1_Silent_p.T429T|KIR3DL1_ENST00000326542.7_Silent_p.T412T	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	429					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGTACACGGAACTTCCAA	0.512													.|||	3	0.000599042	0.0	0.0	5008	,	,		15807	0.003		0.0	False		,,,				2504	0.0					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1285-1287)acG>acA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							275.0	257.0	263.0					19																	55341682		2171	4172	6343	SO:0001819	synonymous_variant	3811							g.chr19:55341682G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1287G>A	19.37:g.55341682G>A						KIR3DL1_ENST00000358178.4_Silent_p.T334T|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.T412T|KIR3DL1_ENST00000538269.1_Silent_p.T429T|KIR3DL1_ENST00000326542.7_Silent_p.T412T	p.T429T	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1320	+								O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1287G>A	CCDS42621.1																																																																																				0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		36	88	0	0	0	1	0	36	88				
APOBEC3B	9582	broad.mit.edu	37	22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A	rs200407707		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39382073G>A	ENST00000333467.3	+	3	476	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		14866	0.0		0.001	False		,,,				2504	0.0					ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(430-432)cGc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B		G	HIS/ARG	0,4394		0,0,2197	51.0	56.0	54.0		431	-4.1	0.0	22		54	1,8557		0,1,4278	no	missense	APOBEC3B	NM_004900.3	29	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	144/383	39382073	1,12951	2197	4279	6476	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382073G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.431G>A	22.37:g.39382073G>A	ENSP00000327459:p.Arg144His					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R144H	p.R144H			Q9UH17	ABC3B_HUMAN			3	486	+	Melanoma(58;0.04)		144					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.431G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901239	0.33535	0.0	1.17E-4	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64991	-0.13;-0.13;-0.13	2.12	-4.07	0.03975	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.56992	0.2023	L	0.31664	0.95	0.09310	N	1	B;D	0.69078	0.0;0.997	B;D	0.64144	0.001;0.922	T	0.49960	-0.8883	9	0.30854	T	0.27	.	4.2649	0.10759	0.4142:0.3334:0.2524:0.0	.	144;144	B0QYD2;Q9UH17	.;ABC3B_HUMAN	H	144	ENSP00000385068:R144H;ENSP00000385060:R144H;ENSP00000327459:R144H	ENSP00000327459:R144H	R	+	2	0	APOBEC3B	37712019	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.070000	0.03440	-1.115000	0.02973	-1.111000	0.02071	CGC		0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		17	72	0	0	0	1	0	17	72				
RNF213	57674	broad.mit.edu	37	17	78357529	78357529	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78357529G>A	ENST00000582970.1	+	59	14266	c.14123G>A	c.(14122-14124)cGt>cAt	p.R4708H	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.R4757H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2781H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4708					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGATAAGCGTATCAGCTCT	0.438																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14122-14124)cGt>cAt		ring finger protein 213							102.0	93.0	96.0					17																	78357529		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78357529G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14123G>A	17.37:g.78357529G>A	ENSP00000464087:p.Arg4708His					RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2781H|RNF213_ENST00000508628.2_Missense_Mutation_p.R4757H|CTD-2047H16.4_ENST00000573394.1_RNA	p.R4708H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		59	14266	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.14123G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785356	0.49997	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.61859	0.98;0.07	5.26	3.3	0.37823	.	0.143817	0.44902	N	0.000418	T	0.53045	0.1772	M	0.73962	2.25	0.30733	N	0.747002	P	0.34587	0.458	B	0.25506	0.061	T	0.61073	-0.7136	10	0.72032	D	0.01	.	11.6547	0.51311	0.1427:0.0:0.8573:0.0	.	2781	Q63HN8	RN213_HUMAN	H	4708;4757;2781;58	ENSP00000425956:R4708H;ENSP00000338218:R2781H	ENSP00000338218:R2781H	R	+	2	0	RNF213	75972124	1.000000	0.71417	0.077000	0.20336	0.797000	0.45037	6.864000	0.75494	0.799000	0.34018	0.655000	0.94253	CGT		0.438	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		13	56	0	0	0	1	0	13	56				
SLC25A22	79751	broad.mit.edu	37	11	792315	792315	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:792315T>C	ENST00000320230.5	-	8	1212	c.731A>G	c.(730-732)aAc>aGc	p.N244S	CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.N244S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	244					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCACAGGGGTTGACGGCCAC	0.692																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(730-732)aAc>aGc		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						51.0	61.0	57.0					11																	792315		2203	4297	6500	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792315T>C	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.731A>G	11.37:g.792315T>C	ENSP00000322020:p.Asn244Ser					SLC25A22_ENST00000531214.1_Missense_Mutation_p.N244S	p.N244S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1212	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	244					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.731A>G	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	T	8.208	0.799706	0.16397	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78246	-1.16;-1.16	3.67	3.67	0.42095	Mitochondrial carrier domain (2);	0.105878	0.64402	D	0.000008	T	0.68439	0.3001	L	0.33710	1.025	0.54753	D	0.999983	B	0.12630	0.006	B	0.24269	0.052	T	0.66775	-0.5838	10	0.46703	T	0.11	-32.8566	12.792	0.57539	0.0:0.0:0.0:1.0	.	244	Q9H936	GHC1_HUMAN	S	244	ENSP00000322020:N244S;ENSP00000437236:N244S	ENSP00000322020:N244S	N	-	2	0	SLC25A22	782315	1.000000	0.71417	0.619000	0.29118	0.006000	0.05464	4.750000	0.62162	1.680000	0.50976	0.416000	0.27883	AAC		0.692	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			9	122	0	0	0	1	0	9	122				
ZBTB17	7709	broad.mit.edu	37	1	16270144	16270144	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16270144C>T	ENST00000375743.4	-	11	1758	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.R509Q|ZBTB17_ENST00000537142.1_Missense_Mutation_p.R427Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	509					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAAACTGTCGCTGGCAGTG	0.672																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(1525-1527)cGa>cAa		zinc finger and BTB domain containing 17							59.0	56.0	57.0					1																	16270144		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16270144C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1526G>A	1.37:g.16270144C>T	ENSP00000364895:p.Arg509Gln					ZBTB17_ENST00000537142.1_Missense_Mutation_p.R427Q|ZBTB17_ENST00000375743.4_Missense_Mutation_p.R509Q	p.R509Q			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	11	1764	-		Colorectal(325;0.000257)|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)	509					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.1526G>A	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.191345|3.191345	0.58017|0.58017	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	.|T;T;T	.|0.07567	.|3.18;3.18;3.18	5.01|5.01	4.1|4.1	0.47936|0.47936	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.068130	.|0.56097	.|D	.|0.000034	T|T	0.14960|0.14960	0.0361|0.0361	L|L	0.42008|0.42008	1.315|1.315	0.80722|0.80722	D|D	1|1	.|B;D;B	.|0.71674	.|0.331;0.998;0.382	.|B;P;B	.|0.56563	.|0.023;0.801;0.04	T|T	0.00849|0.00849	-1.1541|-1.1541	5|10	.|0.62326	.|D	.|0.03	.|.	10.0362|10.0362	0.42131|0.42131	0.0:0.8443:0.0:0.1557|0.0:0.8443:0.0:0.1557	.|.	.|509;427;509	.|Q13105-2;F5H411;Q13105	.|.;.;ZBT17_HUMAN	N|Q	66|509;509;428;427;65	.|ENSP00000364895:R509Q;ENSP00000364885:R509Q;ENSP00000438529:R427Q	.|ENSP00000364881:R65Q	D|R	-|-	1|2	0|0	ZBTB17|ZBTB17	16142731|16142731	0.881000|0.881000	0.30235|0.30235	0.996000|0.996000	0.52242|0.52242	0.002000|0.002000	0.02628|0.02628	1.706000|1.706000	0.37878|0.37878	1.241000|1.241000	0.43820|0.43820	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.672	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		11	46	0	0	0	1	0	11	46				
STAB2	55576	broad.mit.edu	37	12	104142908	104142908	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:104142908C>T	ENST00000388887.2	+	59	6616	c.6412C>T	c.(6412-6414)Cac>Tac	p.H2138Y	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTCACGAGCACGCCACCTG	0.607																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6412-6414)Cac>Tac		stabilin 2							57.0	52.0	53.0					12																	104142908		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104142908C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6412C>T	12.37:g.104142908C>T	ENSP00000373539:p.His2138Tyr					RP11-341G23.4_ENST00000551299.1_RNA	p.H2138Y	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			59	6616	+			2138			EGF-like 17.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6412C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462281	0.84425	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90563	-2.69	5.29	5.29	0.74685	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052636	0.85682	D	0.000000	D	0.94414	0.8203	M	0.64676	1.99	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.93003	0.6425	10	0.32370	T	0.25	.	18.9308	0.92564	0.0:1.0:0.0:0.0	.	2138	Q8WWQ8	STAB2_HUMAN	Y	2138;825	ENSP00000373539:H2138Y	ENSP00000258495:H825Y	H	+	1	0	STAB2	102667038	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	7.247000	0.78257	2.497000	0.84241	0.455000	0.32223	CAC		0.607	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			8	38	0	0	0	1	0	8	38				
SASH1	23328	broad.mit.edu	37	6	148865589	148865589	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:148865589C>T	ENST00000367467.3	+	18	3458	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	995	Pro-rich.				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)		GAGCAGAGAACGCCTTGCTAA	0.612																																						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.(2983-2985)Cgc>Tgc		SAM and SH3 domain containing 1							62.0	68.0	66.0					6																	148865589		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865589C>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.2983C>T	6.37:g.148865589C>T	ENSP00000356437:p.Arg995Cys						p.R995C	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3458	+		Ovarian(120;0.0169)	995			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2983C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290938	0.80914	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.60920	0.15	5.2	5.2	0.72013	.	0.051985	0.85682	D	0.000000	T	0.63604	0.2525	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68307	-0.5443	10	0.87932	D	0	-26.4272	18.7516	0.91818	0.0:1.0:0.0:0.0	.	976;995	Q6P4R9;O94885	.;SASH1_HUMAN	C	995;405	ENSP00000356437:R995C	ENSP00000356437:R995C	R	+	1	0	SASH1	148907282	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.460000	0.60108	2.433000	0.82419	0.650000	0.86243	CGC		0.612	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		13	71	0	0	0	1	0	13	71				
MAP3K11	4296	broad.mit.edu	37	11	65366866	65366866	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65366866G>A	ENST00000530153.1	-	9	1955	c.1434C>T	c.(1432-1434)cgC>cgT	p.R478R	MAP3K11_ENST00000309100.3_Splice_Site_p.R735R|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_Splice_Site_p.R151R					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCCACTCACCGCGGGGCTCCT	0.687																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.e9+1		mitogen-activated protein kinase kinase kinase 11							11.0	13.0	12.0					11																	65366866		2127	4214	6341	SO:0001630	splice_region_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65366866G>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1435+1C>T	11.37:g.65366866G>A						MAP3K11_ENST00000530153.1_Splice_Site_p.R478_splice|MAP3K11_ENST00000532507.1_Splice_Site_p.R151_splice	p.R735_splice	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			9	2690	-			735			Pro-rich.			Splice_Site	SNP	ENST00000530153.1	37	c.2206_splice																																																																																					0.687	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2		Silent	3	10	0	0	0	1	0	3	10				
OR4N4	283694	broad.mit.edu	37	15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517																																						ENST00000328795.4																			1	Substitution - Missense(1)	p.R165S(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(493-495)Cgc>Tgc		olfactory receptor, family 4, subfamily N, member 4							88.0	74.0	79.0					15																	22382965		2185	4255	6440	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382965C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.493C>T	15.37:g.22382965C>T	ENSP00000332500:p.Arg165Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.R165C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	584	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	165					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.493C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.509	-0.313508	0.05422	.	.	ENSG00000183706	ENST00000328795	T	0.00188	8.59	3.37	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.132210	0.35151	N	0.003417	T	0.00178	0.0005	L	0.46157	1.445	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.31861	-0.9928	10	0.54805	T	0.06	-0.1645	8.0468	0.30553	0.4391:0.5609:0.0:0.0	.	165	Q8N0Y3	OR4N4_HUMAN	C	165	ENSP00000332500:R165C	ENSP00000332500:R165C	R	+	1	0	OR4N4	19884329	0.000000	0.05858	0.956000	0.39512	0.268000	0.26511	-1.328000	0.02680	0.689000	0.31550	0.404000	0.27445	CGC		0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			15	66	0	0	0	1	0	15	66				
PDZD8	118987	broad.mit.edu	37	10	119044583	119044583	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:119044583G>A	ENST00000334464.5	-	5	1900	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	554	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGAATTTTCGGTGGTAGTGG	0.423																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(1660-1662)cCg>cTg		PDZ domain containing 8							143.0	144.0	143.0					10																	119044583		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044583G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1661C>T	10.37:g.119044583G>A	ENSP00000334642:p.Pro554Leu					PDZD8_ENST00000482496.1_5'UTR	p.P554L	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	1900	-		Colorectal(252;0.19)	554			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1661C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	6.795	0.515604	0.12944	.	.	ENSG00000165650	ENST00000334464	D	0.83992	-1.79	5.93	3.97	0.46021	.	0.277484	0.36444	N	0.002588	T	0.67173	0.2865	N	0.08118	0	0.31674	N	0.644032	B	0.09022	0.002	B	0.04013	0.001	T	0.66870	-0.5814	10	0.38643	T	0.18	-7.5409	12.9074	0.58160	0.0:0.1206:0.7468:0.1326	.	554	Q8NEN9	PDZD8_HUMAN	L	554	ENSP00000334642:P554L	ENSP00000334642:P554L	P	-	2	0	PDZD8	119034573	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	3.079000	0.50104	1.454000	0.47793	0.591000	0.81541	CCG		0.423	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		15	64	0	0	0	1	0	15	64				
IGF2R	3482	broad.mit.edu	37	6	160494345	160494345	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160494345T>C	ENST00000356956.1	+	34	4939	c.4791T>C	c.(4789-4791)ccT>ccC	p.P1597P		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1597					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)	ATGGGTCCCCTTGTCCCTCCA	0.577																																						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.(4789-4791)ccT>ccC		insulin-like growth factor 2 receptor							193.0	145.0	162.0					6																	160494345		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.chr6:160494345T>C	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.4791T>C	6.37:g.160494345T>C							p.P1597P	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)	34	4939	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1597					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.4791T>C	CCDS5273.1																																																																																				0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		11	30	0	0	0	1	0	11	30				
KLRAP1	10748	broad.mit.edu	37	12	10750711	10750711	+	RNA	SNP	A	A	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:10750711A>C	ENST00000510134.2	-	0	245									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						TCTGAAGGAGACTGCAAAAAT	0.383																																						ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3															167.0	172.0	170.0					12																	10750711		2203	4300	6503			0							g.chr12:10750711A>C	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10750711A>C														0	245	-									RNA	SNP	ENST00000510134.2	37																																																																																						0.383	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		16	89	0	0	0	1	0	16	89				
RLBP1	6017	broad.mit.edu	37	15	89760443	89760443	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89760443G>A	ENST00000268125.5	-	5	693	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	85					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACCCTCTCCGCCACGGCCAC	0.667																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(253-255)gCg>gTg		retinaldehyde binding protein 1	Vitamin A(DB00162)						56.0	56.0	56.0					15																	89760443		2200	4299	6499	SO:0001583	missense	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89760443G>A	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.254C>T	15.37:g.89760443G>A	ENSP00000268125:p.Ala85Val						p.A85V	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			5	693	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		85					B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	c.254C>T	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360675	0.41801	.	.	ENSG00000140522	ENST00000268125	D	0.87729	-2.29	5.03	5.03	0.67393	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.237219	0.43260	D	0.000584	T	0.80232	0.4585	L	0.47716	1.5	0.48511	D	0.999666	P	0.42456	0.78	B	0.33454	0.164	T	0.79701	-0.1693	10	0.30854	T	0.27	-10.3839	12.7701	0.57415	0.0791:0.0:0.9208:0.0	.	85	P12271	RLBP1_HUMAN	V	85	ENSP00000268125:A85V	ENSP00000268125:A85V	A	-	2	0	RLBP1	87561447	1.000000	0.71417	0.999000	0.59377	0.318000	0.28184	4.754000	0.62191	2.341000	0.79615	0.561000	0.74099	GCG		0.667	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		9	53	0	0	0	1	0	9	53				
TBX15	6913	broad.mit.edu	37	1	119427785	119427785	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:119427785C>T	ENST00000369429.3	-	8	1388	c.1379G>A	c.(1378-1380)aGc>aAc	p.S460N	TBX15_ENST00000207157.3_Missense_Mutation_p.S354N			Q96SF7	TBX15_HUMAN	T-box 15	460					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTCCATCTTGCTGTTGCCAGG	0.567																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1378-1380)aGc>aAc		T-box 15							69.0	62.0	64.0					1																	119427785		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427785C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1379G>A	1.37:g.119427785C>T	ENSP00000358437:p.Ser460Asn					TBX15_ENST00000207157.3_Missense_Mutation_p.S354N	p.S460N			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1388	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	460					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1379G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.77|11.77	1.738892|1.738892	0.30774|0.30774	.|.	.|.	ENSG00000092607|ENSG00000092607	ENST00000393149|ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	.|D;D;T	.|0.87650	.|-2.28;-2.16;-1.09	5.31|5.31	4.39|4.39	0.52855|0.52855	.|.	.|0.588253	.|0.18740	.|N	.|0.132485	T|T	0.54822|0.54822	0.1882|0.1882	N|N	0.02539|0.02539	-0.55|-0.55	0.48288|0.48288	D|D	0.999621|0.999621	.|P;B	.|0.35174	.|0.488;0.134	.|B;B	.|0.32211	.|0.142;0.07	T|T	0.62072|0.62072	-0.6931|-0.6931	6|10	0.11485|0.15952	T|T	0.65|0.53	.|.	15.674|15.674	0.77300|0.77300	0.0:0.8511:0.1489:0.0|0.0:0.8511:0.1489:0.0	.|.	.|257;460	.|E9PCG3;Q96SF7	.|.;TBX15_HUMAN	T|N	186|257;354;460;188	.|ENSP00000207157:S354N;ENSP00000358437:S460N;ENSP00000398625:S188N	ENSP00000376856:A186T|ENSP00000207157:S354N	A|S	-|-	1|2	0|0	TBX15|TBX15	119229308|119229308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.205000|3.205000	0.51090|0.51090	1.446000|1.446000	0.47643|0.47643	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.567	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		6	62	0	0	0	1	0	6	62				
CYP27C1	339761	broad.mit.edu	37	2	127956952	127956952	+	Splice_Site	SNP	C	C	T	rs138626696		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:127956952C>T	ENST00000335247.7	-	4	682	c.552G>A	c.(550-552)acG>acA	p.T184T	CYP27C1_ENST00000409327.1_Splice_Site_p.T184T	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	184						membrane (GO:0016020)	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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CCAGACTCACCGTGTCGACGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19679	0.0		0.001	False		,,,				2504	0.0					ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.e4+1		cytochrome P450, family 27, subfamily C, polypeptide 1		C		0,4406		0,0,2203	148.0	132.0	138.0		552	0.3	1.0	2	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice	CYP27C1	NM_001001665.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		184/373	127956952	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127956952C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.552+1G>A	2.37:g.127956952C>T						CYP27C1_ENST00000409327.1_Splice_Site_p.T184_splice	p.T184_splice	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	4	682	-	Colorectal(110;0.1)		184					Q6ZNI7	Splice_Site	SNP	ENST00000335247.7	37	c.552_splice	CCDS33285.1																																																																																				0.562	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	Silent	10	107	0	0	0	1	0	10	107				
DGCR8	54487	broad.mit.edu	37	22	20073512	20073512	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:20073512C>T	ENST00000351989.3	+	2	455	c.26C>T	c.(25-27)cCg>cTg	p.P9L	MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.P9L|DGCR8_ENST00000383024.2_Missense_Mutation_p.P9L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	9	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCCTCTCCGCTCCCGTGT	0.557																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(25-27)cCg>cTg		DGCR8 microprocessor complex subunit							64.0	78.0	73.0					22																	20073512		2203	4299	6502	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073512C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.26C>T	22.37:g.20073512C>T	ENSP00000263209:p.Pro9Leu					DGCR8_ENST00000383024.2_Missense_Mutation_p.P9L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P9L	p.P9L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	455	+	Colorectal(54;0.0993)		9			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.26C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014701	0.75161	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000457069;ENST00000407755	T;T;T	0.40225	1.14;1.04;1.04	5.37	4.31	0.51392	.	0.048189	0.85682	N	0.000000	T	0.30198	0.0757	L	0.29908	0.895	0.80722	D	1	B;B	0.31989	0.35;0.238	B;B	0.23419	0.046;0.014	T	0.18493	-1.0335	10	0.87932	D	0	-4.4892	12.9432	0.58357	0.0:0.917:0.0:0.083	.	9;9	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	9	ENSP00000263209:P9L;ENSP00000372488:P9L;ENSP00000384726:P9L	ENSP00000263209:P9L	P	+	2	0	DGCR8	18453512	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.602000	0.67612	1.398000	0.46701	-0.367000	0.07326	CCG		0.557	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			14	104	0	0	0	1	0	14	104				
ANKRD11	29123	broad.mit.edu	37	16	89350061	89350061	+	Silent	SNP	G	G	A	rs139955323		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89350061G>A	ENST00000301030.4	-	9	3349	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	ANKRD11_ENST00000378330.2_Silent_p.D963D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	963	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGCCCTGCCGTCCCTGCGCT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17514	0.0		0.0	False		,,,				2504	0.001					ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2887-2889)gaC>gaT		ankyrin repeat domain 11		G		0,4396		0,0,2198	82.0	86.0	85.0		2889	-10.5	0.0	16	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		963/2664	89350061	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350061G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2889C>T	16.37:g.89350061G>A						ANKRD11_ENST00000378330.2_Silent_p.D963D	p.D963D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3349	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	963			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2889C>T	CCDS32513.1																																																																																				0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		26	106	0	0	0	1	0	26	106				
SARDH	1757	broad.mit.edu	37	9	136568130	136568130	+	Missense_Mutation	SNP	C	C	T	rs148314623		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136568130C>T	ENST00000371872.4	-	13	1833	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R	SARDH_ENST00000439388.1_Missense_Mutation_p.G526R|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000422262.2_Missense_Mutation_p.G358R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	526					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.G526W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGTAAGCCCCGTAGTAGTCG	0.667																																						ENST00000371872.4																			1	Substitution - Missense(1)	p.G526W(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1576-1578)Ggg>Agg		sarcosine dehydrogenase		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	67.0	59.0	62.0		1576,1576	4.7	1.0	9	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	SARDH	NM_001134707.1,NM_007101.3	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	526/919,526/919	136568130	1,13005	2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136568130C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1576G>A	9.37:g.136568130C>T	ENSP00000360938:p.Gly526Arg					SARDH_ENST00000422262.2_Missense_Mutation_p.G358R|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.G526R	p.G526R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	13	1833	-			526					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1576G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.930000	0.52759	2.27E-4	0.0	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	T;T;T	0.76709	-0.63;-0.63;-1.04	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.70275	2.135	0.80722	D	1	B	0.31413	0.322	B	0.33521	0.165	T	0.80906	-0.1173	10	0.87932	D	0	-24.3789	15.6955	0.77494	0.0:1.0:0.0:0.0	.	526	Q9UL12	SARDH_HUMAN	R	526;526;358;526	ENSP00000360938:G526R;ENSP00000403084:G526R;ENSP00000415537:G358R	ENSP00000360938:G526R	G	-	1	0	SARDH	135557951	0.997000	0.39634	0.964000	0.40570	0.591000	0.36615	4.018000	0.57174	2.286000	0.76751	0.561000	0.74099	GGG		0.667	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			8	31	0	0	0	1	0	8	31				
PROS1	5627	broad.mit.edu	37	3	93624977	93624977	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:93624977G>A	ENST00000394236.3	-	5	673	c.357C>T	c.(355-357)gaC>gaT	p.D119D	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	119	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)	GACTACACTGGTCTGGAATGG	0.358																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(355-357)gaC>gaT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						102.0	105.0	104.0					3																	93624977		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:93624977G>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.357C>T	3.37:g.93624977G>A						PROS1_ENST00000407433.1_5'UTR	p.D119D	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			5	673	-			119			EGF-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.357C>T	CCDS2923.1																																																																																				0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		12	68	0	0	0	1	0	12	68				
SLC10A3	8273	broad.mit.edu	37	X	153716036	153716036	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153716036C>T	ENST00000393587.4	-	3	1507	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SLC10A3_ENST00000369649.4_Missense_Mutation_p.R386Q|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000263512.4_Missense_Mutation_p.R415Q|SLC10A3_ENST00000393586.1_Missense_Mutation_p.R470Q	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	415					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)					GCTGACCGTCCGCCGCTGGGC	0.642																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1243-1245)cGg>cAg		solute carrier family 10, member 3							44.0	36.0	39.0					X																	153716036		2201	4298	6499	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716036C>T	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.1244G>A	X.37:g.153716036C>T	ENSP00000377212:p.Arg415Gln					SLC10A3_ENST00000369649.4_Missense_Mutation_p.R386Q|SLC10A3_ENST00000393586.1_Missense_Mutation_p.R470Q|SLC10A3_ENST00000393587.4_Missense_Mutation_p.R415Q	p.R415Q	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1742	-	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)		415					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.1244G>A	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563985	0.86335	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.13901	2.69;2.55;2.55;2.55	5.4	5.4	0.78164	.	0.073137	0.51477	U	0.000089	T	0.44052	0.1275	M	0.91406	3.205	0.42035	D	0.991041	D;D	0.76494	0.999;0.997	P;P	0.61533	0.89;0.89	T	0.55964	-0.8057	10	0.52906	T	0.07	-6.7375	16.8688	0.86036	0.0:1.0:0.0:0.0	.	386;415	Q9BSL2;P09131	.;P3_HUMAN	Q	386;470;415;415	ENSP00000358663:R386Q;ENSP00000377211:R470Q;ENSP00000263512:R415Q;ENSP00000377212:R415Q	ENSP00000263512:R415Q	R	-	2	0	SLC10A3	153369230	1.000000	0.71417	0.700000	0.30305	0.821000	0.46438	2.479000	0.45197	2.244000	0.73946	0.513000	0.50165	CGG		0.642	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		3	19	0	0	0	1	0	3	19				
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	G	A	rs11811988	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(259-261)ctC>ctT		ankyrin repeat and SOCS box containing 17							108.0	102.0	104.0					1																	76397716		2203	4300	6503	SO:0001819	synonymous_variant	127247				intracellular signal transduction			g.chr1:76397716G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.261C>T	1.37:g.76397716G>A							p.L87L	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	400	-			87					B1APB8|Q8N0X5	Silent	SNP	ENST00000284142.6	37	c.261C>T	CCDS671.1																																																																																				0.378	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		10	28	0	0	0	1	0	10	28				
GPCPD1	56261	broad.mit.edu	37	20	5550838	5550838	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:5550838C>T	ENST00000379019.4	-	12	1316	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	368	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATACCACGGGCACAAAGTCCT	0.363																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1102-1104)gtG>gtA		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							93.0	86.0	89.0					20																	5550838		2203	4300	6503	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5550838C>T		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1104G>A	20.37:g.5550838C>T						GPCPD1_ENST00000481038.1_5'UTR	p.V368V	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			12	1316	-			368			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1104G>A	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201821	0.22121	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.2	3.23	0.37069	.	.	.	.	.	T	0.56426	0.1984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52741	-0.8535	4	.	.	.	-15.8334	7.5875	0.28002	0.0:0.6098:0.2443:0.1458	.	.	.	.	T	67	.	.	A	-	1	0	GPCPD1	5498838	0.983000	0.35010	1.000000	0.80357	0.981000	0.71138	0.233000	0.17911	1.337000	0.45525	0.591000	0.81541	GCC		0.363	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		4	46	0	0	0	1	0	4	46				
CWF19L2	143884	broad.mit.edu	37	11	107309880	107309880	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:107309880C>T	ENST00000282251.5	-	6	627	c.600G>A	c.(598-600)ccG>ccA	p.P200P	CWF19L2_ENST00000433523.1_Silent_p.P200P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	200							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCTTCCAGTACGGATTCAATT	0.318																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(598-600)ccG>ccA		CWF19-like 2, cell cycle control (S. pombe)							75.0	66.0	69.0					11																	107309880		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107309880C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.600G>A	11.37:g.107309880C>T						CWF19L2_ENST00000433523.1_Silent_p.P200P	p.P200P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	6	627	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	200					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.600G>A	CCDS8336.2																																																																																				0.318	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		6	12	0	0	0	1	0	6	12				
SLC41A1	254428	broad.mit.edu	37	1	205779319	205779319	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:205779319C>T	ENST00000367137.3	-	2	1265	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGGCGCAGGGCCACGGTCTGT	0.627																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(250-252)gGc>gAc		solute carrier family 41 (magnesium transporter), member 1							156.0	133.0	141.0					1																	205779319		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779319C>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.251G>A	1.37:g.205779319C>T	ENSP00000356105:p.Gly84Asp						p.G84D	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1265	-	Breast(84;0.0799)		84					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.251G>A	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363761	0.24684	.	.	ENSG00000133065	ENST00000367137	T	0.31247	1.5	5.62	4.7	0.59300	.	0.084430	0.85682	D	0.000000	T	0.21062	0.0507	N	0.21194	0.64	0.42471	D	0.992828	B	0.06786	0.001	B	0.06405	0.002	T	0.04825	-1.0924	10	0.12103	T	0.63	-13.2929	15.7716	0.78173	0.1372:0.8628:0.0:0.0	.	84	Q8IVJ1	S41A1_HUMAN	D	84	ENSP00000356105:G84D	ENSP00000356105:G84D	G	-	2	0	SLC41A1	204045942	1.000000	0.71417	0.978000	0.43139	0.600000	0.36913	5.932000	0.70121	1.359000	0.45940	0.550000	0.68814	GGC		0.627	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			10	75	0	0	0	1	0	10	75				
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	rs201706430		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					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						CATCCTGGCCGAATTGCTTTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20924	0.001		0.0	False		,,,				2504	0.0					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.(85-87)Cgg>Tgg		chromosome 2 open reading frame 71							92.0	87.0	89.0					2																	29297043		1992	4166	6158	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29297043G>A		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.85C>T	2.37:g.29297043G>A	ENSP00000332809:p.Arg29Trp						p.R29W	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	84	-			29						Missense_Mutation	SNP	ENST00000331664.5	37	c.85C>T	CCDS42669.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.86	1.765442	0.31228	.	.	ENSG00000179270	ENST00000331664	T	0.17854	2.25	5.88	-5.99	0.02213	.	0.143123	0.29853	N	0.011038	T	0.14570	0.0352	N	0.22421	0.69	0.19300	N	0.999976	D	0.57571	0.98	P	0.47744	0.556	T	0.22556	-1.0213	10	0.72032	D	0.01	-2.8259	19.4436	0.94836	0.2736:0.0:0.7264:0.0	.	29	A6NGG8	CB071_HUMAN	W	29	ENSP00000332809:R29W	ENSP00000332809:R29W	R	-	1	2	C2orf71	29150547	0.015000	0.18098	0.113000	0.21522	0.211000	0.24417	-0.612000	0.05616	-1.088000	0.03077	-0.291000	0.09656	CGG		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		12	43	0	0	0	1	0	12	43				
CNOT1	23019	broad.mit.edu	37	16	58615359	58615359	+	Missense_Mutation	SNP	G	G	A	rs371890421		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:58615359G>A	ENST00000317147.5	-	11	1437	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	CNOT1_ENST00000441024.2_Missense_Mutation_p.R369C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R369C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	369					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R369C(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACTGTCACGAATTTGAAAT	0.373																																						ENST00000317147.5																			2	Substitution - Missense(2)	p.R369C(2)	large_intestine(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1105-1107)Cgt>Tgt		CCR4-NOT transcription complex, subunit 1		G	CYS/ARG,CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	102.0	93.0	96.0		1105,1105	5.3	1.0	16		96	0,8600		0,0,4300	no	missense,missense	CNOT1	NM_016284.3,NM_206999.1	180,180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	369/2377,369/1552	58615359	1,12995	2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58615359G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1105C>T	16.37:g.58615359G>A	ENSP00000320949:p.Arg369Cys					CNOT1_ENST00000441024.2_Missense_Mutation_p.R369C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R369C	p.R369C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	11	1437	-			369					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1105C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578957	0.86645	2.27E-4	0.0	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.41758	0.99;0.99	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.56916	0.809;0.642;0.731	T	0.45234	-0.9275	9	.	.	.	-5.2419	18.9648	0.92692	0.0:0.0:1.0:0.0	.	369;369;369	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	369	ENSP00000320949:R369C;ENSP00000413113:R369C	.	R	-	1	0	CNOT1	57172860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.775000	0.85489	2.486000	0.83907	0.563000	0.77884	CGT		0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	40	0	0	0	1	0	7	40				
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40223918C>T	ENST00000280871.4	-	7	1482	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1432-1434)Gca>Aca		solute carrier family 2 (facilitated glucose transporter), member 13							103.0	98.0	100.0					12																	40223918		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40223918C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1432G>A	12.37:g.40223918C>T	ENSP00000280871:p.Ala478Thr	HNSCC(50;0.14)					p.A478T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			7	1482	-		Lung NSC(34;0.105)|all_lung(34;0.123)	478					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1432G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832694	0.71258	.	.	ENSG00000151229	ENST00000280871	D	0.82255	-1.59	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	D	0.000010	D	0.83403	0.5247	M	0.72118	2.19	0.80722	D	1	B	0.24823	0.112	B	0.27715	0.082	T	0.78853	-0.2040	10	0.29301	T	0.29	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	T	478	ENSP00000280871:A478T	ENSP00000280871:A478T	A	-	1	0	SLC2A13	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA		0.378	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			5	22	0	0	0	1	0	5	22				
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:116718256C>T	ENST00000292055.4	-	22	3605	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000542607.1_Silent_p.S1130S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375300.1_Silent_p.S1248S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.S525S	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0					ENST00000375300.1																			1	Substitution - coding silent(1)	p.S1296S(1)	lung(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3742-3744)tcG>tcA		SIK family kinase 3		C		6,4396	11.4+/-27.6	0,6,2195	180.0	162.0	168.0		3570	-7.1	1.0	11	dbSNP_134	168	0,8584		0,0,4292	no	coding-synonymous	SIK3	NM_025164.3		0,6,6487	TT,TC,CC		0.0,0.1363,0.0462		1190/1264	116718256	6,12980	2201	4292	6493	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116718256C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3570G>A	11.37:g.116718256C>T						AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1130S	p.S1248S			Q9Y2K2	SIK3_HUMAN			22	3749	-			1190					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.3744G>A	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	SIK3	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA		0.512	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		26	110	0	0	0	1	0	26	110				
ABLIM3	22885	broad.mit.edu	37	5	148586656	148586656	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:148586656C>T	ENST00000506113.1	+	5	1016	c.534C>T	c.(532-534)tgC>tgT	p.C178C	ABLIM3_ENST00000309868.7_Silent_p.C178C|ABLIM3_ENST00000508983.1_Silent_p.C178C|ABLIM3_ENST00000504238.1_Silent_p.C178C|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.C178C|ABLIM3_ENST00000356541.3_Silent_p.C178C			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	178	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAAGTGCCAGACCTGCA	0.622																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(532-534)tgC>tgT		actin binding LIM protein family, member 3							101.0	87.0	92.0					5																	148586656		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148586656C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.534C>T	5.37:g.148586656C>T						ABLIM3_ENST00000356541.3_Silent_p.C178C|ABLIM3_ENST00000309868.7_Silent_p.C178C|ABLIM3_ENST00000508983.1_Silent_p.C178C|ABLIM3_ENST00000504238.1_Silent_p.C178C|ABLIM3_ENST00000326685.7_Silent_p.C178C|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA	p.C178C			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1016	+			178			LIM zinc-binding 3.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.534C>T	CCDS4294.1																																																																																				0.622	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		10	40	0	0	0	1	0	10	40				
JAK3	3718	broad.mit.edu	37	19	17943479	17943479	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:17943479C>T	ENST00000527670.1	-	18	2558	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	JAK3_ENST00000458235.1_Silent_p.P843P|JAK3_ENST00000534444.1_Silent_p.P843P			P52333	JAK3_HUMAN	Janus kinase 3	843	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	TGTCGCCTAGCGGGTCATAGC	0.622		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.(2527-2529)ccG>ccA		Janus kinase 3							85.0	78.0	81.0					19																	17943479		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:17943479C>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.2529G>A	19.37:g.17943479C>T						JAK3_ENST00000534444.1_Silent_p.P843P|JAK3_ENST00000527670.1_Silent_p.P843P	p.P843P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2628	-			843			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.2529G>A	CCDS12366.1																																																																																				0.622	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		15	76	0	0	0	1	0	15	76				
EDC3	80153	broad.mit.edu	37	15	74948199	74948199	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:74948199C>T	ENST00000315127.4	-	4	876	c.695G>A	c.(694-696)cGt>cAt	p.R232H	EDC3_ENST00000426797.3_Missense_Mutation_p.R232H|EDC3_ENST00000568176.1_Missense_Mutation_p.R232H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	232	Required for interaction with DDX6. {ECO:0000250}.				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)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCCGGGAACGGGTACCACT	0.502																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(694-696)cGt>cAt		enhancer of mRNA decapping 3							125.0	115.0	118.0					15																	74948199		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948199C>T	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.695G>A	15.37:g.74948199C>T	ENSP00000320503:p.Arg232His					EDC3_ENST00000426797.3_Missense_Mutation_p.R232H|EDC3_ENST00000568176.1_Missense_Mutation_p.R232H	p.R232H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			4	876	-			232			Required for interaction with DDX6 (By similarity).		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.695G>A	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137635	0.77775	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.54	4.62	0.57501	.	0.101132	0.64402	D	0.000006	T	0.51652	0.1687	L	0.36672	1.1	0.58432	D	0.999997	P	0.50710	0.938	P	0.49752	0.621	T	0.53563	-0.8421	9	0.52906	T	0.07	-11.3451	13.3665	0.60687	0.0:0.9244:0.0:0.0756	.	232	Q96F86	EDC3_HUMAN	H	232	.	ENSP00000320503:R232H	R	-	2	0	EDC3	72735252	0.998000	0.40836	0.786000	0.31890	0.917000	0.54804	4.334000	0.59291	1.335000	0.45486	0.655000	0.94253	CGT		0.502	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		11	51	0	0	0	1	0	11	51				
FGF23	8074	broad.mit.edu	37	12	4479895	4479895	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:4479895A>G	ENST00000237837.1	-	3	515	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	124					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(370-372)Tac>Cac		fibroblast growth factor 23							109.0	106.0	107.0					12																	4479895		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479895A>G	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.370T>C	12.37:g.4479895A>G	ENSP00000237837:p.Tyr124His						p.Y124H	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	515	-			124					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.370T>C	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652407	0.29336	.	.	ENSG00000118972	ENST00000237837	D	0.94497	-3.44	4.88	4.88	0.63580	.	0.233697	0.45606	D	0.000345	D	0.93693	0.7985	M	0.73962	2.25	0.31947	N	0.610134	B	0.23591	0.088	B	0.23574	0.047	D	0.94252	0.7494	10	0.72032	D	0.01	-16.1632	14.6339	0.68676	1.0:0.0:0.0:0.0	.	124	Q9GZV9	FGF23_HUMAN	H	124	ENSP00000237837:Y124H	ENSP00000237837:Y124H	Y	-	1	0	FGF23	4350156	0.994000	0.37717	0.932000	0.37286	0.022000	0.10575	3.504000	0.53347	2.042000	0.60477	0.448000	0.29417	TAC		0.597	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			20	110	0	0	0	1	0	20	110				
UTP11L	51118	broad.mit.edu	37	1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38484964C>T	ENST00000373014.4	+	6	537	c.476C>T	c.(475-477)cCg>cTg	p.P159L	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	159					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(475-477)cCg>cTg		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							115.0	118.0	117.0					1																	38484964		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484964C>T	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.476C>T	1.37:g.38484964C>T	ENSP00000362105:p.Pro159Leu					UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	p.P159L	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	537	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	159					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.476C>T	CCDS429.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100004	0.94197	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	9	0.52906	T	0.07	-21.5617	20.051	0.97627	0.0:1.0:0.0:0.0	.	159	Q9Y3A2	UTP11_HUMAN	L	159	.	ENSP00000362105:P159L	P	+	2	0	UTP11L	38257551	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.001000	0.63946	2.740000	0.93945	0.650000	0.86243	CCG		0.433	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		8	70	0	0	0	1	0	8	70				
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					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						CCTGAAGGGCCTGTGCAGCCC	0.627																																						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.(214-216)Ctg>Atg		NYN domain and retroviral integrase containing							68.0	72.0	71.0					14																	24877090		2031	4192	6223	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877090C>A	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.214C>A	14.37:g.24877090C>A	ENSP00000371994:p.Leu72Met						p.L72M	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	532	+			72					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.214C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	NYNRIN	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			16	81	1	0	2.35188e-11	1	2.42184e-11	16	81				
PKD1L1	168507	broad.mit.edu	37	7	47955075	47955075	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47955075T>C	ENST00000289672.2	-	8	1232	c.1182A>G	c.(1180-1182)tcA>tcG	p.S394S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	394					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						tactggggtctgagtcttcca	0.398																																						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.(1180-1182)tcA>tcG		polycystic kidney disease 1 like 1							113.0	106.0	108.0					7																	47955075		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47955075T>C	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.1182A>G	7.37:g.47955075T>C							p.S394S	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			8	1232	-			394					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.1182A>G	CCDS34633.1																																																																																				0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		12	48	0	0	0	1	0	12	48				
CYFIP2	26999	broad.mit.edu	37	5	156746769	156746769	+	Splice_Site	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:156746769G>T	ENST00000521420.1	+	13	1369		c.e13-1		CYFIP2_ENST00000522463.1_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000347377.6_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000442283.2_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTGCCCAGGTGATCGCCA	0.597																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e14-1		cytoplasmic FMR1 interacting protein 2							73.0	71.0	72.0					5																	156746769		2203	4300	6503	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746769G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1279-1G>T	5.37:g.156746769G>T						CYFIP2_ENST00000522463.1_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000521420.1_Splice_Site|CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000442283.2_Splice_Site		NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1787	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)							Splice_Site	SNP	ENST00000521420.1	37			.	.	.	.	.	.	.	.	.	.	G	25.9	4.684829	0.88639	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1152	0.97926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYFIP2	156679347	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.624000	0.90961	2.750000	0.94351	0.655000	0.94253	.		0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Intron	5	24	1	0	1.23904e-05	1	1.25109e-05	5	24				
BRPF3	27154	broad.mit.edu	37	6	36181863	36181863	+	Missense_Mutation	SNP	C	C	T	rs367563122		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36181863C>T	ENST00000357641.6	+	8	2942	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R897C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	897					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCTTTGCAACGCTTGCTCAG	0.537																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2689-2691)Cgc>Tgc		bromodomain and PHD finger containing, 3		C	CYS/ARG	0,4406		0,0,2203	104.0	98.0	100.0		2689	0.7	0.3	6		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRPF3	NM_015695.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	897/1206	36181863	1,13005	2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36181863C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2689C>T	6.37:g.36181863C>T	ENSP00000350267:p.Arg897Cys					BRPF3_ENST00000534400.1_Missense_Mutation_p.R897C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron	p.R897C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			8	2942	+			897					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2689C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635697	0.29068	0.0	1.16E-4	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.16743	2.49;2.32	5.65	0.725	0.18242	.	0.842352	0.11150	N	0.594192	T	0.01905	0.0060	N	0.02011	-0.69	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.46789	-0.9166	10	0.51188	T	0.08	.	8.8929	0.35446	0.0:0.6337:0.0:0.3663	.	897	Q9ULD4	BRPF3_HUMAN	C	897;897;311	ENSP00000350267:R897C;ENSP00000436504:R897C	ENSP00000350267:R897C	R	+	1	0	BRPF3	36289841	0.018000	0.18449	0.332000	0.25469	0.696000	0.40369	1.627000	0.37050	0.059000	0.16252	0.505000	0.49811	CGC		0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		16	101	0	0	0	1	0	16	101				
SIGLEC9	27180	broad.mit.edu	37	19	51628275	51628275	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51628275C>T	ENST00000250360.3	+	1	111	c.44C>T	c.(43-45)gCg>gTg	p.A15V	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A15V	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	15					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)		AGGGAGAGGGCGGAAGGACAG	0.612																																						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.(43-45)gCg>gTg		sialic acid binding Ig-like lectin 9							110.0	75.0	87.0					19																	51628275		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628275C>T	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.44C>T	19.37:g.51628275C>T	ENSP00000250360:p.Ala15Val					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A15V	p.A15V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	111	+		all_neural(266;0.0529)	15					Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.44C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	7.102	0.574314	0.13623	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13196	2.61;2.84	2.86	-3.42	0.04825	.	48.201700	0.00166	N	0.000000	T	0.11324	0.0276	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23868	-1.0176	10	0.14656	T	0.56	.	4.9601	0.14061	0.1552:0.5823:0.0:0.2625	.	15	Q9Y336	SIGL9_HUMAN	V	15	ENSP00000413861:A15V;ENSP00000250360:A15V	ENSP00000250360:A15V	A	+	2	0	SIGLEC9	56320087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.299000	0.08254	-0.786000	0.04516	-1.395000	0.01148	GCG		0.612	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		7	36	0	0	0	1	0	7	36				
ZRANB2	9406	broad.mit.edu	37	1	71536662	71536662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:71536662G>A	ENST00000370920.3	-	7	832	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ZRANB2_ENST00000254821.6_Silent_p.D177D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	177	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AGAGATCAGCGTCATCTTCAT	0.328																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(529-531)gaC>gaT		zinc finger, RAN-binding domain containing 2							98.0	100.0	100.0					1																	71536662		2203	4300	6503	SO:0001819	synonymous_variant	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71536662G>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.531C>T	1.37:g.71536662G>A						ZRANB2_ENST00000254821.6_Silent_p.D177D	p.D177D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			7	832	-			177			Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Silent	SNP	ENST00000370920.3	37	c.531C>T	CCDS659.1																																																																																				0.328	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		3	10	0	0	0	1	0	3	10				
LGALS14	56891	broad.mit.edu	37	19	40199855	40199855	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40199855C>T	ENST00000392052.3	+	4	545	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AAATGGCCAACGCATTTACAA	0.463																																						ENST00000392052.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(322-324)Cgc>Tgc		lectin, galactoside-binding, soluble, 14							108.0	105.0	106.0					19																	40199855		2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40199855C>T	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.322C>T	19.37:g.40199855C>T	ENSP00000375905:p.Arg108Cys					LGALS14_ENST00000360675.3_Missense_Mutation_p.R137C	p.R108C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	545	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	108			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.322C>T	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	1.775	-0.483471	0.04383	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.05855	3.38;3.38	0.902	-0.408	0.12381	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.06005	0.0156	L	0.49455	1.56	0.09310	N	1	B;B	0.17852	0.0;0.024	B;B	0.17098	0.002;0.017	T	0.38866	-0.9641	9	0.38643	T	0.18	.	3.8321	0.08879	0.4214:0.5786:0.0:0.0	.	108;137	Q8TCE9;A8MPV8	PPL13_HUMAN;.	C	108;137	ENSP00000375905:R108C;ENSP00000353893:R137C	ENSP00000353893:R137C	R	+	1	0	LGALS14	44891695	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.558000	0.05978	-0.083000	0.12618	0.313000	0.20887	CGC		0.463	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		10	41	0	0	0	1	0	10	41				
SNX31	169166	broad.mit.edu	37	8	101586126	101586126	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101586126G>A	ENST00000311812.2	-	14	1440	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	SNX31_ENST00000428383.2_Silent_p.C331C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	430					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCCCAAAAACGCAGTCATCTT	0.348																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(1288-1290)tgC>tgT		sorting nexin 31							134.0	132.0	133.0					8																	101586126		2202	4298	6500	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101586126G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1290C>T	8.37:g.101586126G>A						SNX31_ENST00000428383.2_Silent_p.C331C	p.C430C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		14	1440	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		430					C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.1290C>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	8.031	0.761855	0.15914	.	.	ENSG00000174226	ENST00000518342	.	.	.	5.51	-0.287	0.12858	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	-0.3712	3.607	0.08046	0.4822:0.0:0.3479:0.1699	.	.	.	.	V	38	.	.	A	-	2	0	SNX31	101655302	0.007000	0.16637	0.937000	0.37676	0.926000	0.56050	0.161000	0.16481	0.067000	0.16545	-0.484000	0.04775	GCG		0.348	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		3	26	0	0	0	1	0	3	26				
PCDHGB6	56100	broad.mit.edu	37	5	140789375	140789375	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140789375G>A	ENST00000520790.1	+	1	1606	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	536	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(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)			GCAGGCCCGCGACCACGGCTC	0.687																																						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.(1606-1608)Gac>Aac									15.0	19.0	17.0					5																	140789375		2020	4167	6187	SO:0001583	missense	0							g.chr5:140789375G>A	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.1606G>A	5.37:g.140789375G>A	ENSP00000428603:p.Asp536Asn					PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D536N	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	1606	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1606G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	17.96	3.515731	0.64634	.	.	ENSG00000253305	ENST00000520790	T	0.79940	-1.32	5.26	4.4	0.53042	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.93249	0.7849	H	0.98111	4.15	0.34097	D	0.661366	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.987	D	0.97610	1.0129	9	0.87932	D	0	.	13.5614	0.61790	0.0763:0.0:0.9237:0.0	.	536;536	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	536	ENSP00000428603:D536N	ENSP00000428603:D536N	D	+	1	0	PCDHGB6	140769559	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	6.753000	0.74904	1.227000	0.43598	0.462000	0.41574	GAC		0.687	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		3	22	0	0	0	1	0	3	22				
DHX16	8449	broad.mit.edu	37	6	30627570	30627570	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30627570C>T	ENST00000376442.3	-	11	1992	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.V118V	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	599	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GGATCTGCAACACAGATACTA	0.562																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1795-1797)gtG>gtA		DEAH (Asp-Glu-Ala-His) box polypeptide 16							93.0	90.0	91.0					6																	30627570		2203	4300	6503	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30627570C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1797G>A	6.37:g.30627570C>T						DHX16_ENST00000376437.5_Silent_p.V118V|DHX16_ENST00000480966.1_5'UTR	p.V599V	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			11	1992	-			599			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.1797G>A	CCDS4685.1																																																																																				0.562	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		8	36	0	0	0	1	0	8	36				
IL1RAP	3556	broad.mit.edu	37	3	190322109	190322109	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:190322109G>A	ENST00000412504.2	+	3	509	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IL1RAP_ENST00000443369.2_Missense_Mutation_p.R86H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000434491.1_Intron			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	86	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTAACTTCCGCCTCCCCGAG	0.507																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(256-258)cGc>cAc		interleukin 1 receptor accessory protein							100.0	90.0	94.0					3																	190322109		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190322109G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.257G>A	3.37:g.190322109G>A	ENSP00000412053:p.Arg86His					IL1RAP_ENST00000447382.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R86H|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R86H	p.R86H			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	3	509	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		86			Ig-like C2-type 1.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.257G>A	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582601	0.65992	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;1.98	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	L	0.35854	1.095	0.49389	D	0.999783	D;D;D	0.63880	0.993;0.983;0.984	P;P;B	0.45681	0.452;0.49;0.369	T	0.74206	-0.3740	10	0.38643	T	0.18	.	18.9874	0.92777	0.0:0.0:1.0:0.0	.	86;86;86	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	H	86	ENSP00000072516:R86H;ENSP00000408893:R86H;ENSP00000412053:R86H;ENSP00000401132:R86H;ENSP00000390541:R86H;ENSP00000389149:R86H;ENSP00000409352:R86H;ENSP00000387371:R86H;ENSP00000314807:R86H;ENSP00000412008:R86H	ENSP00000072516:R86H	R	+	2	0	IL1RAP	191804803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.774000	0.75012	2.813000	0.96785	0.655000	0.94253	CGC		0.507	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			15	51	0	0	0	1	0	15	51				
PKD1L1	168507	broad.mit.edu	37	7	47933631	47933631	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47933631T>C	ENST00000289672.2	-	15	2347	c.2297A>G	c.(2296-2298)tAc>tGc	p.Y766C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	766	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						GTAGTTGCTGTACACCACACT	0.582																																						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.(2296-2298)tAc>tGc		polycystic kidney disease 1 like 1							90.0	68.0	76.0					7																	47933631		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933631T>C	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.2297A>G	7.37:g.47933631T>C	ENSP00000289672:p.Tyr766Cys						p.Y766C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2347	-			766			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2297A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	t	14.13	2.442637	0.43326	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	4.06	0.47325	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.843175	0.10239	N	0.698708	T	0.74589	0.3736	L	0.42245	1.32	0.24399	N	0.994719	D	0.89917	1.0	D	0.68943	0.961	T	0.61168	-0.7117	10	0.51188	T	0.08	-4.3584	10.5539	0.45105	0.0:0.0:0.1625:0.8375	.	766	Q8TDX9	PK1L1_HUMAN	C	766	ENSP00000289672:Y766C	ENSP00000289672:Y766C	Y	-	2	0	PKD1L1	47900156	0.997000	0.39634	0.016000	0.15963	0.406000	0.30931	3.531000	0.53546	0.824000	0.34613	0.444000	0.29173	TAC		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		18	48	0	0	0	1	0	18	48				
ABCA13	154664	broad.mit.edu	37	7	48506591	48506591	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:48506591T>G	ENST00000435803.1	+	44	12878	c.12854T>G	c.(12853-12855)cTg>cGg	p.L4285R	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4285					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGTGCTTCTGCGGAAGTTT	0.478																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12853-12855)cTg>cGg		ATP-binding cassette, sub-family A (ABC1), member 13							125.0	132.0	129.0					7																	48506591		2025	4191	6216	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48506591T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12854T>G	7.37:g.48506591T>G	ENSP00000411096:p.Leu4285Arg					ABCA13_ENST00000544596.1_Intron	p.L4285R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			44	12878	+			4285					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12854T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939062	0.34189	.	.	ENSG00000179869	ENST00000435803	D	0.87412	-2.25	5.29	5.29	0.74685	.	0.000000	0.35646	N	0.003063	D	0.93141	0.7816	M	0.82630	2.6	0.49915	D	0.999831	D;D	0.89917	0.999;1.0	D;D	0.85130	0.974;0.997	D	0.93691	0.7007	10	0.66056	D	0.02	.	11.8987	0.52671	0.0:0.0:0.0:1.0	.	1987;4285	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	4285	ENSP00000411096:L4285R	ENSP00000411096:L4285R	L	+	2	0	ABCA13	48477137	0.302000	0.24454	0.009000	0.14445	0.024000	0.10985	3.441000	0.52893	2.132000	0.65825	0.533000	0.62120	CTG		0.478	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	104	0	0	0	1	0	22	104				
DNASE2	1777	broad.mit.edu	37	19	12989582	12989582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12989582G>A	ENST00000222219.3	-	4	505	c.413C>T	c.(412-414)cCg>cTg	p.P138L	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	138					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						AGAGGAGGCCGGTGGAGGGAA	0.587																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(412-414)cCg>cTg		deoxyribonuclease II, lysosomal							69.0	60.0	63.0					19																	12989582		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12989582G>A	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.413C>T	19.37:g.12989582G>A	ENSP00000222219:p.Pro138Leu					DNASE2_ENST00000538460.1_Intron	p.P138L	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			4	505	-			138					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.413C>T	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741647	0.15642	.	.	ENSG00000105612	ENST00000222219	T	0.12361	2.69	5.33	0.447	0.16608	.	0.477033	0.22974	N	0.053400	T	0.12008	0.0292	M	0.78456	2.415	0.18873	N	0.999982	B	0.19583	0.037	B	0.15484	0.013	T	0.43507	-0.9387	10	0.06625	T	0.88	.	5.414	0.16363	0.0721:0.121:0.5576:0.2494	.	138	O00115	DNS2A_HUMAN	L	138	ENSP00000222219:P138L	ENSP00000222219:P138L	P	-	2	0	DNASE2	12850582	0.031000	0.19500	0.006000	0.13384	0.000000	0.00434	0.451000	0.21779	0.195000	0.20347	-1.818000	0.00600	CCG		0.587	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			6	28	0	0	0	1	0	6	28				
CUX1	1523	broad.mit.edu	37	7	101758534	101758534	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101758534G>A	ENST00000292535.7	+	8	693	c.655G>A	c.(655-657)Gat>Aat	p.D219N	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.D219N|CUX1_ENST00000547394.2_Missense_Mutation_p.D214N|CUX1_ENST00000546411.2_Missense_Mutation_p.D219N|CUX1_ENST00000425244.2_Missense_Mutation_p.D184N|CUX1_ENST00000549414.2_Missense_Mutation_p.D219N|CUX1_ENST00000437600.4_Missense_Mutation_p.D230N|CUX1_ENST00000292538.4_Missense_Mutation_p.D230N|CUX1_ENST00000360264.3_Missense_Mutation_p.D230N|CUX1_ENST00000556210.1_Missense_Mutation_p.D219N|CUX1_ENST00000393824.3_Missense_Mutation_p.D193N	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	219					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						AACCAAATACGATGAAGAAAC	0.373																																						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.(688-690)Gat>Aat		cut-like homeobox 1							116.0	111.0	113.0					7																	101758534		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.chr7:101758534G>A	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.655G>A	7.37:g.101758534G>A	ENSP00000292535:p.Asp219Asn					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.D230N|CUX1_ENST00000292535.7_Missense_Mutation_p.D219N|CUX1_ENST00000556210.1_Missense_Mutation_p.D219N|CUX1_ENST00000550008.2_Missense_Mutation_p.D219N|CUX1_ENST00000549414.2_Missense_Mutation_p.D219N|CUX1_ENST00000547394.2_Missense_Mutation_p.D214N|CUX1_ENST00000546411.2_Missense_Mutation_p.D219N|CUX1_ENST00000292538.4_Missense_Mutation_p.D230N|CUX1_ENST00000393824.3_Missense_Mutation_p.D193N|CUX1_ENST00000425244.2_Missense_Mutation_p.D184N	p.D230N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			8	708	+			219					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.688G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896566	0.72639	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.79653	0.99;0.99;0.99;1.48;0.99;0.99;-1.29;0.99;0.99;0.99	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	L	0.41824	1.3	0.58432	D	0.999999	P;D;D;D;P;B;D	0.89917	0.926;1.0;1.0;1.0;0.798;0.217;1.0	B;D;D;D;B;B;D	0.83275	0.21;0.99;0.981;0.968;0.305;0.049;0.996	D	0.84946	0.0868	10	0.41790	T	0.15	-23.5061	20.2228	0.98330	0.0:0.0:1.0:0.0	.	193;219;184;214;230;230;230	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	N	230;214;230;184;230;219;219;219;219;219	ENSP00000292538:D230N;ENSP00000449371:D214N;ENSP00000353401:D230N;ENSP00000409745:D184N;ENSP00000414091:D230N;ENSP00000292535:D219N;ENSP00000446630:D219N;ENSP00000447373:D219N;ENSP00000450125:D219N;ENSP00000451558:D219N	ENSP00000292535:D219N	D	+	1	0	CUX1	101545254	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	7.318000	0.79029	2.789000	0.95967	0.655000	0.94253	GAT		0.373	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	53	0	0	0	1	0	5	53				
GFOD1	54438	broad.mit.edu	37	6	13365808	13365808	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:13365808G>A	ENST00000379287.3	-	2	1004	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	GFOD1_ENST00000379284.1_Missense_Mutation_p.L11F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	114						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCTCATGAGCTTGGGGTAG	0.652																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(340-342)Ctc>Ttc		glucose-fructose oxidoreductase domain containing 1							75.0	76.0	75.0					6																	13365808		2201	4298	6499	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365808G>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.340C>T	6.37:g.13365808G>A	ENSP00000368589:p.Leu114Phe					GFOD1_ENST00000379284.1_Missense_Mutation_p.L11F	p.L114F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1004	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	114					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.340C>T	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917482	0.73098	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.60171	1.73;0.21	5.03	5.03	0.67393	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82121	-0.0614	10	0.72032	D	0.01	-21.0781	17.34	0.87293	0.0:0.0:1.0:0.0	.	114	Q9NXC2	GFOD1_HUMAN	F	114;11	ENSP00000368589:L114F;ENSP00000368586:L11F	ENSP00000368586:L11F	L	-	1	0	GFOD1	13473787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.640000	0.74319	2.314000	0.78098	0.650000	0.86243	CTC		0.652	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		22	138	0	0	0	1	0	22	138				
KIF13A	63971	broad.mit.edu	37	6	17800327	17800327	+	Silent	SNP	G	G	A	rs374925875	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:17800327G>A	ENST00000259711.6	-	21	2577	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	KIF13A_ENST00000378816.5_Silent_p.H824H|KIF13A_ENST00000378843.2_Silent_p.H824H|KIF13A_ENST00000378814.5_Silent_p.H824H|KIF13A_ENST00000378826.2_Silent_p.H824H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	824					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)			TCACTTCCACGTGGAGACGCC	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20022	0.0		0.0	False		,,,				2504	0.0					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.(2470-2472)caC>caT		kinesin family member 13A		G	,,,	4,4258		0,4,2127	65.0	66.0	66.0		2472,2472,2472,2472	-5.4	0.5	6		66	0,8496		0,0,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	,,,	0,4,6375	AA,AG,GG		0.0,0.0939,0.0314	,,,	824/1771,824/1758,824/1750,824/1806	17800327	4,12754	2131	4248	6379	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.chr6:17800327G>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.2472C>T	6.37:g.17800327G>A						KIF13A_ENST00000378843.2_Silent_p.H824H|KIF13A_ENST00000259711.6_Silent_p.H824H|KIF13A_ENST00000378816.5_Silent_p.H824H|KIF13A_ENST00000378826.2_Silent_p.H824H	p.H824H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		21	2471	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	824					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.2472C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747143	0.15710	9.39E-4	0.0	ENSG00000137177	ENST00000358380	.	.	.	5.33	-5.45	0.02616	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63514	-0.6620	4	.	.	.	.	17.6923	0.88271	0.7886:0.0:0.2114:0.0	.	.	.	.	M	218	.	.	T	-	2	0	KIF13A	17908306	0.051000	0.20477	0.495000	0.27527	0.968000	0.65278	-0.542000	0.06091	-1.921000	0.01068	-0.793000	0.03317	ACG		0.542	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			8	36	0	0	0	1	0	8	36				
RYR3	6263	broad.mit.edu	37	15	34150103	34150103	+	Silent	SNP	C	C	T	rs369078948		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34150103C>T	ENST00000389232.4	+	99	14200	c.14130C>T	c.(14128-14130)gaC>gaT	p.D4710D	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Silent_p.D4705D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4710					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGTGCGACGACATGATGA	0.597																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(14128-14130)gaC>gaT		ryanodine receptor 3		C		1,4337		0,1,2168	73.0	73.0	73.0		14130	-9.5	0.4	15		73	0,8564		0,0,4282	no	coding-synonymous	RYR3	NM_001036.3		0,1,6450	TT,TC,CC		0.0,0.0231,0.0078		4710/4871	34150103	1,12901	2169	4282	6451	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34150103C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14130C>T	15.37:g.34150103C>T						RYR3_ENST00000415757.3_Silent_p.D4705D	p.D4710D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	99	14200	+		all_lung(180;7.18e-09)	4710					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.14130C>T	CCDS45210.1																																																																																				0.597	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	32	0	0	0	1	0	6	32				
GAK	2580	broad.mit.edu	37	4	871404	871404	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:871404G>A	ENST00000314167.4	-	16	1965	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	GAK_ENST00000511163.1_Splice_Site_p.R540W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCACTCACCGCATCTTGTCG	0.652																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e16+1		cyclin G associated kinase							47.0	42.0	44.0					4																	871404		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:871404G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1856+1C>T	4.37:g.871404G>A						GAK_ENST00000511163.1_Splice_Site_p.R540_splice	p.R619_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	16	1965	-			619			C2 tensin-type.		Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	c.1856_splice	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987428	0.74589	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.85773	-2.03;-2.03	5.71	0.188	0.15114	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.275248	0.38720	N	0.001590	D	0.89884	0.6844	M	0.67700	2.07	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.72982	0.979;0.972;0.979;0.979	D	0.88923	0.3367	10	0.87932	D	0	-25.9473	13.728	0.62769	0.0:0.0:0.5467:0.4533	.	540;540;619;515	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	619;540	ENSP00000314499:R619W;ENSP00000421361:R540W	ENSP00000314499:R619W	R	-	1	2	GAK	861404	1.000000	0.71417	0.957000	0.39632	0.789000	0.44602	1.944000	0.40263	-0.165000	0.10908	-0.262000	0.10625	CGG		0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Missense_Mutation	5	39	0	0	0	1	0	5	39				
LAMA1	284217	broad.mit.edu	37	18	6959468	6959468	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:6959468G>A	ENST00000389658.3	-	54	7743	c.7650C>T	c.(7648-7650)atC>atT	p.I2550I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2550	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				TGTTGCCTCCGATCAGCATGA	0.478																																						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.(7648-7650)atC>atT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89.0	74.0	79.0					18																	6959468		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.chr18:6959468G>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.7650C>T	18.37:g.6959468G>A							p.I2550I	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			54	7743	-		Colorectal(10;0.172)	2550			Laminin G-like 3.			Silent	SNP	ENST00000389658.3	37	c.7650C>T	CCDS32787.1																																																																																				0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		9	42	0	0	0	1	0	9	42				
SPATA31E1	286234	broad.mit.edu	37	9	90502868	90502868	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:90502868G>A	ENST00000325643.5	+	4	3532	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1156					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCCCAGAGTGTGTCTGGTAA	0.632																																						ENST00000325643.5																			0											c.(3466-3468)Gtg>Atg		SPATA31 subfamily E, member 1							37.0	41.0	39.0					9																	90502868		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90502868G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3466G>A	9.37:g.90502868G>A	ENSP00000322640:p.Val1156Met						p.V1156M	NM_178828.4	NP_849150.3					4	3532	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3466G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	8.244	0.807575	0.16467	.	.	ENSG00000177992	ENST00000325643	T	0.03524	3.9	3.03	-6.07	0.02158	.	5.776640	0.00357	N	0.000023	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.30236	0.274	B	0.26517	0.07	T	0.32161	-0.9917	10	0.30078	T	0.28	.	0.8443	0.01157	0.1484:0.2474:0.2348:0.3693	.	1156	Q6ZUB1	CI079_HUMAN	M	1156	ENSP00000322640:V1156M	ENSP00000322640:V1156M	V	+	1	0	C9orf79	89692688	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	-3.310000	0.00190	-0.345000	0.07892	GTG		0.632	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		12	40	0	0	0	1	0	12	40				
HECA	51696	broad.mit.edu	37	6	139487597	139487597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:139487597C>T	ENST00000367658.2	+	2	733	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	150					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGCATCGGCCGCGCGCGCAG	0.617																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(448-450)Cgc>Tgc		headcase homolog (Drosophila)							75.0	74.0	74.0					6																	139487597		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487597C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.448C>T	6.37:g.139487597C>T	ENSP00000356630:p.Arg150Cys					RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	p.R150C	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	733	+			150						Missense_Mutation	SNP	ENST00000367658.2	37	c.448C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022782	0.54683	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72877	-0.4159	9	0.87932	D	0	.	13.0472	0.58933	0.6208:0.3792:0.0:0.0	.	150	Q9UBI9	HDC_HUMAN	C	150	.	ENSP00000356630:R150C	R	+	1	0	HECA	139529290	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	2.197000	0.42696	0.747000	0.32809	0.655000	0.94253	CGC		0.617	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		22	64	0	0	0	1	0	22	64				
CACHD1	57685	broad.mit.edu	37	1	65147754	65147754	+	Missense_Mutation	SNP	G	G	A	rs371669378		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65147754G>A	ENST00000371073.2	+	26	3551	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1133H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1184					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAGGCGCCGCTACTGGGGT	0.498																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3550-3552)cGc>cAc		cache domain containing 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	107.0	112.0		3398	5.9	1.0	1		112	0,8600		0,0,4300	no	missense	CACHD1	NM_020925.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1133/1224	65147754	1,13005	2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65147754G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3551G>A	1.37:g.65147754G>A	ENSP00000360113:p.Arg1184His					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1133H	p.R1184H			Q5VU97	CAHD1_HUMAN			26	3551	+			1184					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3551G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.386269	0.95967	2.27E-4	0.0	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24723	1.84;1.84	5.91	5.91	0.95273	.	0.046236	0.85682	D	0.000000	T	0.34106	0.0886	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.10291	-1.0636	10	0.66056	D	0.02	-29.7671	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1184	Q5VU97	CAHD1_HUMAN	H	1184;1133	ENSP00000360113:R1184H;ENSP00000290039:R1133H	ENSP00000290039:R1133H	R	+	2	0	CACHD1	64920342	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.374000	0.97172	2.793000	0.96121	0.655000	0.94253	CGC		0.498	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	42	0	0	0	1	0	5	42				
LDLRAD3	143458	broad.mit.edu	37	11	36057737	36057737	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:36057737C>T	ENST00000315571.5	+	2	152	c.131C>T	c.(130-132)cCg>cTg	p.P44L	LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	44	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGTGCATCCCGGGCGCCTGG	0.612																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(130-132)cCg>cTg		low density lipoprotein receptor class A domain containing 3							101.0	93.0	96.0					11																	36057737		2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36057737C>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.131C>T	11.37:g.36057737C>T	ENSP00000318607:p.Pro44Leu					LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	p.P44L	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			2	152	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	44			LDL-receptor class A 1.		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.131C>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029873	0.93575	.	.	ENSG00000179241	ENST00000545142;ENST00000315571	D	0.96041	-3.89	5.43	5.43	0.79202	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97585	1.0113	10	0.72032	D	0.01	.	18.2104	0.89868	0.0:1.0:0.0:0.0	.	44	Q86YD5	LRAD3_HUMAN	L	44	ENSP00000318607:P44L	ENSP00000318607:P44L	P	+	2	0	LDLRAD3	36014313	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.204000	0.77872	2.537000	0.85549	0.655000	0.94253	CCG		0.612	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		6	97	0	0	0	1	0	6	97				
THAP3	90326	broad.mit.edu	37	1	6688564	6688564	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:6688564C>T	ENST00000054650.4	+	3	238	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_ENST00000307896.6_Missense_Mutation_p.P27L|THAP3_ENST00000484676.1_3'UTR|THAP3_ENST00000377627.3_Missense_Mutation_p.P27L	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	27							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597																																						ENST00000377627.3																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(79-81)cCg>cTg		THAP domain containing, apoptosis associated protein 3							37.0	34.0	35.0					1																	6688564		2203	4300	6503	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6688564C>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.80C>T	1.37:g.6688564C>T	ENSP00000054650:p.Pro27Leu					THAP3_ENST00000484676.1_3'UTR|THAP3_ENST00000054650.4_Missense_Mutation_p.P27L|THAP3_ENST00000307896.6_Missense_Mutation_p.P27L	p.P27L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	107	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	27					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.80C>T	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930502	0.73327	.	.	ENSG00000041988	ENST00000054650;ENST00000307896;ENST00000377627	D;D;D	0.99695	-6.43;-6.43;-6.43	5.01	5.01	0.66863	Zinc finger, C2CH-type (4);	0.000000	0.53938	D	0.000046	D	0.99813	0.9918	H	0.96576	3.845	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	0.96881	0.9646	10	0.87932	D	0	-26.9429	13.8015	0.63204	0.0:1.0:0.0:0.0	.	27;27;27	Q8WTV1-4;Q8WTV1-3;Q8WTV1	.;.;THAP3_HUMAN	L	27	ENSP00000054650:P27L;ENSP00000311537:P27L;ENSP00000366854:P27L	ENSP00000054650:P27L	P	+	2	0	THAP3	6611151	1.000000	0.71417	0.994000	0.49952	0.456000	0.32438	5.581000	0.67471	2.319000	0.78375	0.484000	0.47621	CCG		0.597	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		3	19	0	0	0	1	0	3	19				
ST14	6768	broad.mit.edu	37	11	130059742	130059742	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130059742G>A	ENST00000278742.5	+	5	967	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	183	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCTGCCCCCGCGGGCGCGCT	0.667																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(547-549)ccG>ccA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						80.0	83.0	82.0					11																	130059742		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130059742G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.549G>A	11.37:g.130059742G>A							p.P183P	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	5	967	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	183					Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.549G>A	CCDS8487.1																																																																																				0.667	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			19	82	0	0	0	1	0	19	82				
C1orf174	339448	broad.mit.edu	37	1	3806546	3806546	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3806546T>C	ENST00000361605.3	-	4	808	c.710A>G	c.(709-711)gAc>gGc	p.D237G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	237	Poly-Asp.					nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		atcatcgtcgtcgtcatcatc	0.388																																						ENST00000361605.3																			0				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(709-711)gAc>gGc		chromosome 1 open reading frame 174							206.0	174.0	184.0					1																	3806546		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3806546T>C	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.710A>G	1.37:g.3806546T>C	ENSP00000355306:p.Asp237Gly					C1orf174_ENST00000486765.1_5'UTR	p.D237G	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	4	808	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	237			Poly-Asp.		A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.710A>G	CCDS53.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816214	0.70912	.	.	ENSG00000198912	ENST00000361605	T	0.29397	1.57	5.38	5.38	0.77491	.	0.376047	0.28241	N	0.016079	T	0.46229	0.1382	L	0.54323	1.7	0.47737	D	0.999506	D	0.61080	0.989	P	0.58820	0.846	T	0.37267	-0.9713	10	0.46703	T	0.11	-6.491	14.5532	0.68081	0.0:0.0:0.0:1.0	.	237	Q8IYL3	CA174_HUMAN	G	237	ENSP00000355306:D237G	ENSP00000355306:D237G	D	-	2	0	C1orf174	3796406	0.972000	0.33761	0.047000	0.18901	0.003000	0.03518	2.841000	0.48223	2.038000	0.60285	0.477000	0.44152	GAC		0.388	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		7	30	0	0	0	1	0	7	30				
PIK3C2B	5287	broad.mit.edu	37	1	204409441	204409441	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204409441G>A	ENST00000367187.3	-	23	3814	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D	PIK3C2B_ENST00000424712.2_Silent_p.D1058D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1086	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCGAAGGTCGTCCCCACACT	0.552																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3256-3258)gaC>gaT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							123.0	113.0	116.0					1																	204409441		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409441G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3258C>T	1.37:g.204409441G>A						PIK3C2B_ENST00000424712.2_Silent_p.D1058D	p.D1086D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3814	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1086			PI3K/PI4K.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.3258C>T	CCDS1446.1																																																																																				0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		12	74	0	0	0	1	0	12	74				
MUC5B	727897	broad.mit.edu	37	11	1256378	1256378	+	Silent	SNP	C	C	T	rs546384509		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:1256378C>T	ENST00000529681.1	+	22	2752	c.2694C>T	c.(2692-2694)taC>taT	p.Y898Y	MUC5B_ENST00000447027.1_Silent_p.Y901Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	898	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {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)		p.Y901Y(1)		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)		GCGTGGCCTACGGGGATGGCC	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		14475	0.0		0.0	False		,,,				2504	0.001					ENST00000447027.1																			1	Substitution - coding silent(1)	p.Y901Y(1)	large_intestine(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2701-2703)taC>taT		mucin 5B, oligomeric mucus/gel-forming							56.0	65.0	62.0					11																	1256378		2110	4215	6325	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256378C>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.2694C>T	11.37:g.1256378C>T						MUC5B_ENST00000529681.1_Silent_p.Y898Y	p.Y901Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	22	2761	+		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)	898			VWFC 1.|VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2703C>T	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	42	0	0	0	1	0	8	42				
DPF2	5977	broad.mit.edu	37	11	65107961	65107961	+	Silent	SNP	C	C	T	rs139698375	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65107961C>T	ENST00000528416.1	+	2	271	c.138C>T	c.(136-138)acC>acT	p.T46T	DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.T46T|DPF2_ENST00000252268.4_Silent_p.T46T	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	46					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCACAGACCGGAGTAGCCC	0.562																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(136-138)acC>acT		D4, zinc and double PHD fingers family 2		C		1,4401	2.1+/-5.4	0,1,2200	99.0	100.0	100.0		138	-11.0	0.1	11	dbSNP_134	100	0,8594		0,0,4297	no	coding-synonymous	DPF2	NM_006268.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		46/392	65107961	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65107961C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.138C>T	11.37:g.65107961C>T						DPF2_ENST00000252268.4_Silent_p.T46T|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.T46T	p.T46T	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			2	271	+			46					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.138C>T	CCDS8100.1																																																																																				0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		17	85	0	0	0	1	0	17	85				
ANKRD20A1	84210	broad.mit.edu	37	9	67951950	67951950	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:67951950G>A	ENST00000377477.2	+	9	1025	c.913G>A	c.(913-915)Gtg>Atg	p.V305M		NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	305						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						CCCCGAGAAAGTGTCAGAGCC	0.343																																						ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(913-915)Gtg>Atg		ankyrin repeat domain 20 family, member A1							108.0	107.0	108.0					9																	67951950		1335	2277	3612	SO:0001583	missense	84210							g.chr9:67951950G>A	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.913G>A	9.37:g.67951950G>A	ENSP00000366697:p.Val305Met						p.V305M	NM_032250.3	NP_115626.2					9	1025	+								Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	c.913G>A	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	9.643	1.139593	0.21205	.	.	ENSG00000196774	ENST00000377477	T	0.37915	1.17	1.19	1.19	0.21007	.	.	.	.	.	T	0.17916	0.0430	N	0.14661	0.345	0.09310	N	1	B	0.25486	0.127	B	0.12837	0.008	T	0.18085	-1.0348	9	0.33940	T	0.23	.	5.2341	0.15437	0.0:0.6281:0.3719:0.0	.	305	Q5TYW2	A20A1_HUMAN	M	305	ENSP00000366697:V305M	ENSP00000366697:V305M	V	+	1	0	ANKRD20A1	67541770	0.001000	0.12720	0.007000	0.13788	0.000000	0.00434	-0.034000	0.12225	0.107000	0.17824	0.000000	0.15137	GTG		0.343	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			16	103	0	0	0	1	0	16	103				
CADPS2	93664	broad.mit.edu	37	7	122261737	122261737	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122261737A>G	ENST00000449022.2	-	5	921	c.902T>C	c.(901-903)aTg>aCg	p.M301T	CADPS2_ENST00000412584.2_Missense_Mutation_p.M301T|CADPS2_ENST00000334010.7_Missense_Mutation_p.M301T|CADPS2_ENST00000313070.7_Missense_Mutation_p.M301T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	301					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						CATATTCTCCATATCTTTTGC	0.289																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(901-903)aTg>aCg		Ca++-dependent secretion activator 2							61.0	59.0	60.0					7																	122261737		1784	4060	5844	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261737A>G		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.902T>C	7.37:g.122261737A>G	ENSP00000398481:p.Met301Thr					CADPS2_ENST00000449022.2_Missense_Mutation_p.M301T|CADPS2_ENST00000412584.2_Missense_Mutation_p.M301T|CADPS2_ENST00000313070.7_Missense_Mutation_p.M301T	p.M301T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			5	1323	-			301					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.902T>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831736	0.71258	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.52295	0.67;0.67;0.67;0.68	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.80422	2.495	0.80722	D	1	D;D;D	0.59357	0.985;0.973;0.96	P;P;D	0.64144	0.892;0.885;0.922	T	0.74241	-0.3729	10	0.87932	D	0	-21.1027	15.785	0.78294	1.0:0.0:0.0:0.0	.	301;301;301	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	T	301;301;301;268;301;301	ENSP00000325581:M301T;ENSP00000333940:M301T;ENSP00000400401:M301T;ENSP00000398481:M301T	ENSP00000325581:M301T	M	-	2	0	CADPS2	122048973	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.339000	0.96797	2.136000	0.66102	0.383000	0.25322	ATG		0.289	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		4	15	0	0	0	1	0	4	15				
HHAT	55733	broad.mit.edu	37	1	210796908	210796908	+	Silent	SNP	C	C	T	rs117382486		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:210796908C>T	ENST00000367010.1	+	11	1511	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	HHAT_ENST00000308852.6_Silent_p.H383H|HHAT_ENST00000391905.3_Silent_p.H428H|HHAT_ENST00000541565.1_Silent_p.H291H|HHAT_ENST00000413764.2_Silent_p.H428H|HHAT_ENST00000367009.1_Silent_p.H118H|HHAT_ENST00000537898.1_Silent_p.H363H|HHAT_ENST00000261458.3_Silent_p.H428H|HHAT_ENST00000545154.1_Silent_p.H429H|HHAT_ENST00000545781.1_Silent_p.H365H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	428					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCGATTCCACGCTGCCCTTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		21230	0.001		0.0	False		,,,				2504	0.0					ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1282-1284)caC>caT		hedgehog acyltransferase							299.0	276.0	284.0					1																	210796908		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796908C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1284C>T	1.37:g.210796908C>T						HHAT_ENST00000541565.1_Silent_p.H291H|HHAT_ENST00000367009.1_Silent_p.H118H|HHAT_ENST00000391905.3_Silent_p.H428H|HHAT_ENST00000413764.2_Silent_p.H428H|HHAT_ENST00000261458.3_Silent_p.H428H|HHAT_ENST00000308852.6_Silent_p.H383H|HHAT_ENST00000537898.1_Silent_p.H363H|HHAT_ENST00000545154.1_Silent_p.H429H|HHAT_ENST00000545781.1_Silent_p.H365H	p.H428H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1511	+			428					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.1284C>T	CCDS1495.1																																																																																				0.502	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		35	184	0	0	0	1	0	35	184				
USP35	57558	broad.mit.edu	37	11	77924841	77924841	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:77924841C>G	ENST00000529308.1	+	11	3300	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	USP35_ENST00000526425.1_Missense_Mutation_p.F744L|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.F599L|USP35_ENST00000530267.1_Missense_Mutation_p.F581L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1013					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTGGTGACTTCCACAGACTGG	0.592																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3037-3039)ttC>ttG		ubiquitin specific peptidase 35							75.0	75.0	75.0					11																	77924841		2055	4184	6239	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924841C>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3039C>G	11.37:g.77924841C>G	ENSP00000431876:p.Phe1013Leu					USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.F581L|USP35_ENST00000526425.1_Missense_Mutation_p.F744L|USP35_ENST00000441408.2_Missense_Mutation_p.F599L	p.F1013L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3300	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1013						Missense_Mutation	SNP	ENST00000529308.1	37	c.3039C>G	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	c	16.44	3.124149	0.56613	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.24151	2.67;3.25;1.87;2.64	4.7	3.79	0.43588	.	0.503717	0.16827	N	0.197905	T	0.29783	0.0744	L	0.59436	1.845	0.42662	D	0.993482	P;P	0.47841	0.767;0.901	B;P	0.44696	0.344;0.458	T	0.05402	-1.0887	10	0.30854	T	0.27	-30.7273	12.9931	0.58632	0.0:0.9217:0.0:0.0783	.	1013;599	Q9P2H5;E7EWV7	UBP35_HUMAN;.	L	581;1013;599;744	ENSP00000435468:F581L;ENSP00000431876:F1013L;ENSP00000400825:F599L;ENSP00000434942:F744L	ENSP00000400825:F599L	F	+	3	2	USP35	77602489	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	0.971000	0.29396	1.202000	0.43218	0.558000	0.71614	TTC		0.592	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	39	0	0	0	1	0	5	39				
SEC14L1	6397	broad.mit.edu	37	17	75199713	75199713	+	Silent	SNP	G	G	A	rs370893885		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:75199713G>A	ENST00000413679.2	+	10	1374	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SEC14L1_ENST00000431431.2_Silent_p.A323A|SEC14L1_ENST00000443798.4_Silent_p.A357A|SEC14L1_ENST00000392476.2_Silent_p.A357A|SEC14L1_ENST00000436233.4_Silent_p.A357A|SEC14L1_ENST00000591437.1_Silent_p.A323A|SEC14L1_ENST00000430767.4_Silent_p.A357A|SEC14L1_ENST00000585618.1_Silent_p.A357A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	357	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						TGGTGAGAGCGCTCGGGGAGG	0.602																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1069-1071)gcG>gcA		SEC14-like 1 (S. cerevisiae)		G	,,,,,,	0,4406		0,0,2203	47.0	41.0	43.0		1071,1071,1071,969,1071,1071,1071	-4.7	0.9	17		43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEC14L1	NM_001039573.2,NM_001143998.1,NM_001143999.1,NM_001144001.1,NM_001204408.1,NM_001204410.1,NM_003003.3	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	357/720,357/716,357/716,323/682,357/720,357/716,357/716	75199713	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75199713G>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.1071G>A	17.37:g.75199713G>A						SEC14L1_ENST00000392476.2_Silent_p.A357A|SEC14L1_ENST00000443798.4_Silent_p.A357A|SEC14L1_ENST00000430767.4_Silent_p.A357A|SEC14L1_ENST00000431431.2_Silent_p.A323A|SEC14L1_ENST00000591437.1_Silent_p.A323A|SEC14L1_ENST00000436233.4_Silent_p.A357A|SEC14L1_ENST00000585618.1_Silent_p.A357A	p.A357A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			10	1374	+			357			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1071G>A	CCDS11752.1																																																																																				0.602	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		4	21	0	0	0	1	0	4	21				
APLP2	334	broad.mit.edu	37	11	130010333	130010333	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130010333C>T	ENST00000263574.5	+	15	1986	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	APLP2_ENST00000345598.5_Silent_p.A397A|APLP2_ENST00000528499.1_Silent_p.A570A|APLP2_ENST00000539648.1_Silent_p.A426A|APLP2_ENST00000338167.5_Silent_p.A626A|APLP2_ENST00000278756.7_Silent_p.A636A|APLP2_ENST00000543137.1_Silent_p.A533A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	638					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATCGGTGCCGAAGAGAAAG	0.488																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1912-1914)gcC>gcT		amyloid beta (A4) precursor-like protein 2							218.0	192.0	201.0					11																	130010333		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130010333C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1914C>T	11.37:g.130010333C>T						APLP2_ENST00000528499.1_Silent_p.A570A|APLP2_ENST00000345598.5_Silent_p.A397A|APLP2_ENST00000338167.5_Silent_p.A626A|APLP2_ENST00000278756.7_Silent_p.A636A|APLP2_ENST00000543137.1_Silent_p.A533A|APLP2_ENST00000539648.1_Silent_p.A426A	p.A638A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	15	1986	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	638					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1914C>T	CCDS8486.1																																																																																				0.488	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		8	49	0	0	0	1	0	8	49				
C19orf26	255057	broad.mit.edu	37	19	1234615	1234615	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1234615C>T	ENST00000382477.2	-	6	916	c.642G>A	c.(640-642)acG>acA	p.T214T	C19orf26_ENST00000215376.6_Silent_p.T188T|C19orf26_ENST00000590083.1_Silent_p.T194T			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	214						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|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)		CCGGGTGGGGCGTGGTGGCTG	0.682										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(580-582)acG>acA		chromosome 19 open reading frame 26							66.0	55.0	59.0					19																	1234615		2195	4294	6489	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1234615C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.642G>A	19.37:g.1234615C>T		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.T188T|C19orf26_ENST00000382477.2_Silent_p.T214T	p.T194T			Q8N350	DOS_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	874	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	214					O43385	Silent	SNP	ENST00000382477.2	37	c.582G>A																																																																																					0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		4	10	0	0	0	1	0	4	10				
C5orf45	51149	broad.mit.edu	37	5	179264647	179264647	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179264647G>A	ENST00000292586.6	-	7	866	c.776C>T	c.(775-777)cCa>cTa	p.P259L	C5orf45_ENST00000523084.1_Missense_Mutation_p.P125L|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.P204L|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	259										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCCTGTGCTGGACCAGCTGG	0.602																																						ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(775-777)cCa>cTa		chromosome 5 open reading frame 45							64.0	69.0	67.0					5																	179264647		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264647G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.776C>T	5.37:g.179264647G>A	ENSP00000292586:p.Pro259Leu					C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.P125L|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.P204L|C5orf45_ENST00000523267.1_5'UTR	p.P259L	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	866	-			259					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.776C>T	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459673	0.12342	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.07216	3.21;3.21;3.21	4.03	1.08	0.20341	.	1.409080	0.04830	N	0.438610	T	0.05960	0.0155	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.17268	0.021;0.021	B;B	0.12837	0.008;0.008	T	0.41484	-0.9506	10	0.31617	T	0.26	0.0338	4.3796	0.11288	0.228:0.1878:0.5842:0.0	.	204;259	E9PAK6;Q6NTE8	.;CE045_HUMAN	L	204;125;259	ENSP00000366130:P204L;ENSP00000429107:P125L;ENSP00000292586:P259L	ENSP00000292586:P259L	P	-	2	0	C5orf45	179197253	0.013000	0.17824	0.002000	0.10522	0.030000	0.12068	0.729000	0.26028	0.069000	0.16605	0.491000	0.48974	CCA		0.602	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		7	41	0	0	0	1	0	7	41				
CAPZA3	93661	broad.mit.edu	37	12	18889199	18889199	+	5'Flank	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:18889199A>T	ENST00000317658.3	+	0	0				PLCZ1_ENST00000539875.1_Missense_Mutation_p.L31I|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L31I|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L29I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L29I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CGAATATCTAATTTTTCAAGT	0.353																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(91-93)Tta>Ata		phospholipase C, zeta 1							90.0	91.0	91.0					12																	18889199		2203	4300	6503	SO:0001631	upstream_gene_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18889199A>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889199A>T	Exception_encountered					PLCZ1_ENST00000435379.1_Missense_Mutation_p.L29I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L31I|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L29I|RP11-361I14.2_ENST00000536931.1_RNA	p.L31I			Q86YW0	PLCZ1_HUMAN			3	354	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		31					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.91T>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	9.947	1.219212	0.22373	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.51071	0.72;0.72;1.71;1.7;0.72	5.5	2.76	0.32466	EF-hand-like domain (1);	0.147371	0.29021	N	0.013382	T	0.35624	0.0938	L	0.59436	1.845	0.80722	D	1	P	0.39282	0.666	B	0.35039	0.194	T	0.08638	-1.0712	10	0.29301	T	0.29	.	5.1325	0.14917	0.5373:0.0:0.4627:0.0	.	31	Q86YW0	PLCZ1_HUMAN	I	31;29;29;31;51	ENSP00000266505:L31I;ENSP00000402358:L29I;ENSP00000400504:L29I;ENSP00000445026:L31I;ENSP00000438629:L51I	ENSP00000266505:L31I	L	-	1	2	PLCZ1	18780466	0.996000	0.38824	0.977000	0.42913	0.935000	0.57460	0.563000	0.23547	0.726000	0.32339	0.260000	0.18958	TTA		0.353	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		6	29	0	0	0	1	0	6	29				
ADAR	103	broad.mit.edu	37	1	154557716	154557716	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:154557716G>A	ENST00000368474.4	-	14	3619	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	ADAR_ENST00000368471.3_Silent_p.D845D|ADAR_ENST00000292205.5_Silent_p.D1183D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1140	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCTGGTACCGTCCAGGATCT	0.542																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3418-3420)gaC>gaT		adenosine deaminase, RNA-specific							171.0	162.0	165.0					1																	154557716		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557716G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3420C>T	1.37:g.154557716G>A						ADAR_ENST00000368471.3_Silent_p.D845D|ADAR_ENST00000292205.5_Silent_p.D1183D	p.D1140D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	14	3619	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1140			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.3420C>T	CCDS1071.1																																																																																				0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		13	95	0	0	0	1	0	13	95				
KSR2	283455	broad.mit.edu	37	12	118198839	118198839	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:118198839G>A	ENST00000339824.5	-	4	1690	c.963C>T	c.(961-963)cgC>cgT	p.R321R	KSR2_ENST00000425217.1_Silent_p.R292R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	321					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)					CCTCGTCCACGCGGTGCCCCA	0.677																																						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.(874-876)cgC>cgT		kinase suppressor of ras 2							44.0	54.0	51.0					12																	118198839		1973	4161	6134	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198839G>A	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.963C>T	12.37:g.118198839G>A						KSR2_ENST00000339824.5_Silent_p.R321R	p.R292R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	930	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		321			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.876C>T																																																																																					0.677	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	63	0	0	0	1	0	14	63				
BEND5	79656	broad.mit.edu	37	1	49224879	49224879	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:49224879G>A	ENST00000371833.3	-	3	524	c.438C>T	c.(436-438)aaC>aaT	p.N146N	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	146						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GGCTCAGGCCGTTCTGCTTCT	0.612																																						ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(436-438)aaC>aaT		BEN domain containing 5							38.0	42.0	41.0					1																	49224879		692	1591	2283	SO:0001819	synonymous_variant	79656							g.chr1:49224879G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.438C>T	1.37:g.49224879G>A						AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron	p.N146N	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			3	524	-			146					D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	c.438C>T	CCDS552.2																																																																																				0.612	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		4	8	0	0	0	1	0	4	8				
BPNT1	10380	broad.mit.edu	37	1	220253160	220253160	+	Missense_Mutation	SNP	C	C	T	rs369548050		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:220253160C>T	ENST00000469520.2	-	3	478	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	BPNT1_ENST00000354807.3_Missense_Mutation_p.R10Q|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10Q|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10Q|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GGCTACCAACCGCATCAACAC	0.398																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(28-30)cGg>cAg		3'(2'), 5'-bisphosphate nucleotidase 1		C	GLN/ARG	0,3826		0,0,1913	111.0	98.0	102.0		29	5.5	1.0	1		102	1,8231		0,1,4115	no	missense	BPNT1	NM_006085.4	43	0,1,6028	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	10/309	220253160	1,12057	1913	4116	6029	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253160C>T	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.29G>A	1.37:g.220253160C>T	ENSP00000446828:p.Arg10Gln					BPNT1_ENST00000322067.7_Missense_Mutation_p.R10Q|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10Q|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10Q	p.R10Q			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	3	478	-			10					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.29G>A	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608978	0.66558	0.0	1.21E-4	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.51	5.51	0.81932	.	0.173879	0.51477	D	0.000097	T	0.71492	0.3346	L	0.52573	1.65	0.80722	D	1	B;P;P	0.51351	0.186;0.944;0.709	B;B;B	0.27887	0.065;0.084;0.056	T	0.73733	-0.3890	10	0.33940	T	0.23	.	11.6962	0.51544	0.0:0.9174:0.0:0.0826	.	10;10;10	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	Q	10	ENSP00000318852:R10Q;ENSP00000446828:R10Q;ENSP00000346862:R10Q;ENSP00000410348:R10Q;ENSP00000446953:R10Q;ENSP00000446850:R10Q;ENSP00000449883:R10Q	ENSP00000307087:R10Q	R	-	2	0	BPNT1	218319783	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.413000	0.59795	2.615000	0.88500	0.579000	0.79373	CGG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		4	34	0	0	0	1	0	4	34				
LBR	3930	broad.mit.edu	37	1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:225598067C>T	ENST00000338179.2	-	10	1365	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	414					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.A414T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.433																																						ENST00000338179.2																			1	Substitution - Missense(1)	p.A414T(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1240-1242)Gct>Act		lamin B receptor							126.0	123.0	124.0					1																	225598067		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598067C>T	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1240G>A	1.37:g.225598067C>T	ENSP00000339883:p.Ala414Thr					LBR_ENST00000272163.4_Missense_Mutation_p.A414T	p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	10	1365	-	Breast(184;0.165)		414					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1240G>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422232	0.11928	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.97941	-4.62;-4.62;-4.62	5.87	-0.842	0.10748	.	0.667620	0.15810	N	0.243520	D	0.93220	0.7840	L	0.38838	1.175	0.09310	N	1	B	0.24258	0.1	B	0.23419	0.046	D	0.84538	0.0637	10	0.18710	T	0.47	-0.2495	7.5302	0.27679	0.0:0.4968:0.1029:0.4003	.	414	Q14739	LBR_HUMAN	T	414;414;45	ENSP00000272163:A414T;ENSP00000339883:A414T;ENSP00000397817:A45T	ENSP00000272163:A414T	A	-	1	0	LBR	223664690	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	2.093000	0.41710	-0.314000	0.08716	-0.345000	0.07892	GCT		0.433	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		15	75	0	0	0	1	0	15	75				
CALHM1	255022	broad.mit.edu	37	10	105215431	105215431	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:105215431G>A	ENST00000329905.5	-	2	765	c.629C>T	c.(628-630)aCg>aTg	p.T210M	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	210					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCGGCCTGCGTGAAGCAGGG	0.612																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(628-630)aCg>aTg		calcium homeostasis modulator 1							43.0	40.0	41.0					10																	105215431		2203	4300	6503	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215431G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.629C>T	10.37:g.105215431G>A	ENSP00000329926:p.Thr210Met					RP11-225H22.4_ENST00000411906.1_RNA	p.T210M	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			2	765	-			210					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.629C>T	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873560	0.72180	.	.	ENSG00000185933	ENST00000329905	T	0.18960	2.18	5.43	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.69307	0.963	T	0.42616	-0.9441	10	0.87932	D	0	-28.4061	15.9878	0.80174	0.0:0.2489:0.7511:0.0	.	210	Q8IU99	CAHM1_HUMAN	M	210	ENSP00000329926:T210M	ENSP00000329926:T210M	T	-	2	0	CALHM1	105205421	1.000000	0.71417	0.950000	0.38849	0.670000	0.39368	5.212000	0.65225	2.541000	0.85698	0.462000	0.41574	ACG		0.612	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		10	34	0	0	0	1	0	10	34				
PDE7A	5150	broad.mit.edu	37	8	66753717	66753717	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:66753717T>C	ENST00000401827.3	-	1	470	c.27A>G	c.(25-27)gtA>gtG	p.V9V	CTD-2532N20.1_ENST00000607622.1_lincRNA|PDE7A_ENST00000396642.3_Silent_p.V9V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	9					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCAGGGGCAGTACCGGCAGCT	0.731																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(25-27)gtA>gtG		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						14.0	19.0	17.0					8																	66753717		1949	4139	6088	SO:0001819	synonymous_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66753717T>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.27A>G	8.37:g.66753717T>C						PDE7A_ENST00000396642.3_Silent_p.V9V	p.V9V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	470	-			9					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	ENST00000401827.3	37	c.27A>G	CCDS56538.1																																																																																				0.731	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			4	22	0	0	0	1	0	4	22				
B4GALNT1	2583	broad.mit.edu	37	12	58022502	58022502	+	Silent	SNP	G	G	A	rs376140415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022502G>A	ENST00000341156.4	-	8	1580	c.996C>T	c.(994-996)ttC>ttT	p.F332F	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Silent_p.F277F|B4GALNT1_ENST00000449184.3_Silent_p.F299F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	332					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ACACCTTGCCGAAGGGCATGA	0.617																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(994-996)ttC>ttT		beta-1,4-N-acetyl-galactosaminyl transferase 1		G		0,4406		0,0,2203	62.0	51.0	55.0		996	-3.4	1.0	12		55	4,8596		0,4,4296	no	coding-synonymous	B4GALNT1	NM_001478.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		332/534	58022502	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022502G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.996C>T	12.37:g.58022502G>A						B4GALNT1_ENST00000449184.3_Silent_p.F299F|B4GALNT1_ENST00000418555.2_Silent_p.F277F	p.F332F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1580	-	Melanoma(17;0.122)		332					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.996C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	9.181	1.023564	0.19433	0.0	4.65E-4	ENSG00000135454	ENST00000547741	.	.	.	4.64	-3.43	0.04810	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53436	-0.8439	4	.	.	.	-5.483	11.1531	0.48471	0.4266:0.0:0.5734:0.0	.	.	.	.	L	4	.	.	S	-	2	0	B4GALNT1	56308769	0.282000	0.24268	0.983000	0.44433	0.779000	0.44077	-0.230000	0.09083	-0.727000	0.04888	-0.982000	0.02568	TCG		0.617	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		7	44	0	0	0	1	0	7	44				
CRAMP1L	57585	broad.mit.edu	37	16	1716527	1716527	+	Missense_Mutation	SNP	G	G	A	rs372834355		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1716527G>A	ENST00000397412.3	+	16	3061	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.E366K|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E988K|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E985K			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	988						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						GTCTTCAGACGAGGTGACGGG	0.582																																						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.(2962-2964)Gag>Aag		Crm, cramped-like (Drosophila)							65.0	67.0	66.0					16																	1716527		2023	4173	6196	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1716527G>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.2962G>A	16.37:g.1716527G>A	ENSP00000380559:p.Glu988Lys					CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E988K|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.E366K|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E985K	p.E988K			Q96RY5	CRML_HUMAN			16	3061	+			988					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2962G>A	CCDS10440.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.072107|2.072107	0.36566|0.36566	.|.	.|.	ENSG00000007545|ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317|ENST00000415022	.|.	.|.	.|.	5.64|5.64	1.81|1.81	0.25067|0.25067	.|.	0.658903|.	0.16308|.	N|.	0.220136|.	T|T	0.22126|0.22126	0.0533|0.0533	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.08055|.	0.003|.	T|T	0.22243|0.22243	-1.0222|-1.0222	9|5	0.07325|.	T|.	0.83|.	-10.2777|-10.2777	2.3704|2.3704	0.04329|0.04329	0.2766:0.1262:0.4755:0.1217|0.2766:0.1262:0.4755:0.1217	.|.	988|.	Q96RY5|.	CRML_HUMAN|.	K|Q	988;988;985;366|110	.|.	ENSP00000262317:E366K|.	E|R	+|+	1|2	0|0	CRAMP1L|CRAMP1L	1656528|1656528	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.135000|0.135000	0.20990|0.20990	0.026000|0.026000	0.13599|0.13599	0.173000|0.173000	0.19788|0.19788	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.582	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			4	28	0	0	0	1	0	4	28				
IMPDH1	3614	broad.mit.edu	37	7	128034367	128034367	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128034367C>T	ENST00000480861.1	-	13	1550	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S	IMPDH1_ENST00000348127.6_Silent_p.S545S|IMPDH1_ENST00000343214.4_Silent_p.S471S|IMPDH1_ENST00000470772.1_Silent_p.S495S|IMPDH1_ENST00000496200.1_Silent_p.S471S|IMPDH1_ENST00000378717.4_Silent_p.S512S|IMPDH1_ENST00000338791.6_Silent_p.S581S|IMPDH1_ENST00000419067.2_Silent_p.S548S|IMPDH1_ENST00000354269.5_Silent_p.S571S	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAATCTGGGCCGACATGGTCC	0.592																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1741-1743)tcG>tcA		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						119.0	96.0	104.0					7																	128034367		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034367C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1473G>A	7.37:g.128034367C>T						IMPDH1_ENST00000496200.1_Silent_p.S471S|IMPDH1_ENST00000354269.5_Silent_p.S571S|IMPDH1_ENST00000470772.1_Silent_p.S495S|IMPDH1_ENST00000419067.2_Silent_p.S548S|IMPDH1_ENST00000343214.4_Silent_p.S471S|IMPDH1_ENST00000378717.4_Silent_p.S512S|IMPDH1_ENST00000348127.6_Silent_p.S545S|IMPDH1_ENST00000480861.1_Silent_p.S491S	p.S581S	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			16	2093	-			496						Silent	SNP	ENST00000480861.1	37	c.1743G>A	CCDS55161.1																																																																																				0.592	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		11	36	0	0	0	1	0	11	36				
ADAMTS6	11174	broad.mit.edu	37	5	64748629	64748629	+	Missense_Mutation	SNP	G	G	A	rs148384415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:64748629G>A	ENST00000536360.1	-	5	1561	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	250	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCACAAACCGTTCAATGCTC	0.418																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(748-750)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 6		G	TRP/ARG	0,4406		0,0,2203	209.0	181.0	191.0		748	4.6	1.0	5	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS6	NM_197941.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	250/1118	64748629	1,13005	2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64748629G>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.748C>T	5.37:g.64748629G>A	ENSP00000440995:p.Arg250Trp						p.R250W			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	5	1561	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	250			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085193	0.76642	0.0	1.16E-4	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.70045	-0.45;-0.45;-0.45	5.49	4.6	0.57074	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86685	0.1919	10	0.72032	D	0.01	.	15.2239	0.73336	0.0:0.0:0.8541:0.1459	.	250	Q9UKP5	ATS6_HUMAN	W	250	ENSP00000370443:R250W;ENSP00000423551:R250W;ENSP00000440995:R250W	ENSP00000261306:R250W	R	-	1	2	ADAMTS6	64784385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.583000	0.74053	1.251000	0.43983	0.563000	0.77884	CGG		0.418	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		16	64	0	0	0	1	0	16	64				
MTCL1	23255	broad.mit.edu	37	18	8783876	8783876	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:8783876G>A	ENST00000306329.11	+	5	1846	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	SOGA2_ENST00000517570.1_Missense_Mutation_p.A256T|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.A256T|SOGA2_ENST00000359865.3_Missense_Mutation_p.A256T														p.A256T(1)									TCGGGACCACGCACCCAGCAT	0.652																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.A256T(1)	large_intestine(1)								c.(766-768)Gca>Aca		SOGA family member 2							54.0	55.0	55.0					18																	8783876		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8783876G>A																												ENST00000306329.11:c.1846G>A	18.37:g.8783876G>A	ENSP00000305027:p.Ala616Thr					SOGA2_ENST00000306329.11_Missense_Mutation_p.A616T|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.A256T|SOGA2_ENST00000400050.3_Missense_Mutation_p.A256T	p.A256T	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	908	+			607			Pro-rich.			Missense_Mutation	SNP	ENST00000306329.11	37	c.766G>A		.	.	.	.	.	.	.	.	.	.	G	4.167	0.029529	0.08054	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.14144	2.53;2.54;2.53	5.67	-6.8	0.01709	.	2.239820	0.01810	N	0.033407	T	0.05044	0.0135	N	0.08118	0	0.33152	D	0.545855	P;P	0.38370	0.628;0.621	B;B	0.27500	0.037;0.08	T	0.35943	-0.9768	10	0.13108	T	0.6	-0.034	10.2394	0.43303	0.2305:0.3673:0.4021:0.0	.	277;256	A8MQ54;Q9Y4B5-3	.;.	T	277;256;256;256	ENSP00000429556:A256T;ENSP00000352927:A256T;ENSP00000382924:A256T	ENSP00000305027:A277T	A	+	1	0	CCDC165	8773876	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.429000	0.06982	-1.179000	0.02737	-0.315000	0.08773	GCA		0.652	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			12	96	0	0	0	1	0	12	96				
GPR115	221393	broad.mit.edu	37	6	47682266	47682266	+	Missense_Mutation	SNP	C	C	T	rs145102054		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:47682266C>T	ENST00000283303.2	+	6	1543	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	GPR115_ENST00000371220.1_Missense_Mutation_p.R486W|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.R429W	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	429					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGTGTGGTCCCGGGTGGTTGT	0.493																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1285-1287)Cgg>Tgg		G protein-coupled receptor 115		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	182.0	160.0	167.0		1285	5.4	1.0	6	dbSNP_134	167	0,8600		0,0,4300	no	missense	GPR115	NM_153838.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	429/696	47682266	1,13005	2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682266C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1285C>T	6.37:g.47682266C>T	ENSP00000283303:p.Arg429Trp					GPR115_ENST00000371220.1_Missense_Mutation_p.R486W|GPR115_ENST00000327753.3_Missense_Mutation_p.R429W	p.R429W	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1543	+			429					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1285C>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391181	0.42410	2.27E-4	0.0	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.43294	0.95;0.95;0.95	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.361592	0.27366	N	0.019692	T	0.47985	0.1475	L	0.39898	1.24	0.31078	N	0.712283	D	0.76494	0.999	D	0.70935	0.971	T	0.45991	-0.9223	10	0.66056	D	0.02	-9.0396	18.6292	0.91354	0.0:1.0:0.0:0.0	.	429	Q8IZF3	GP115_HUMAN	W	486;429;429	ENSP00000360264:R486W;ENSP00000328319:R429W;ENSP00000283303:R429W	ENSP00000283303:R429W	R	+	1	2	GPR115	47790225	0.000000	0.05858	1.000000	0.80357	0.302000	0.27658	0.692000	0.25482	2.721000	0.93114	0.655000	0.94253	CGG		0.493	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		16	69	0	0	0	1	0	16	69				
POLR2A	5430	broad.mit.edu	37	17	7405400	7405400	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7405400G>A	ENST00000322644.6	+	15	2930	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	844	Bridging helix.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGGGGGGTCGTGAGGGGCTC	0.582																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2530-2532)cGt>cAt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							42.0	37.0	39.0					17																	7405400		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405400G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2531G>A	17.37:g.7405400G>A	ENSP00000314949:p.Arg844His						p.R844H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			15	2930	+		Prostate(122;0.173)	844			Bridging helix.		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2531G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311019	0.95629	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.93488	-3.23	5.92	5.92	0.95590	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.87932	D	0	-6.4219	19.0962	0.93253	0.0:0.0:1.0:0.0	.	844	P24928	RPB1_HUMAN	H	800;844	ENSP00000314949:R844H	ENSP00000314949:R844H	R	+	2	0	SLC35G6	7346124	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.920000	0.87521	2.818000	0.97014	0.655000	0.94253	CGT		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	23	0	0	0	1	0	4	23				
KCNQ2	3785	broad.mit.edu	37	20	62078121	62078121	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:62078121C>T	ENST00000359125.2	-	2	540	c.366G>A	c.(364-366)tcG>tcA	p.S122S	KCNQ2_ENST00000357249.2_Silent_p.S122S|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000354587.3_Silent_p.S122S|KCNQ2_ENST00000360480.3_Silent_p.S122S|KCNQ2_ENST00000344425.5_Silent_p.S122S|KCNQ2_ENST00000344462.4_Silent_p.S122S|KCNQ2_ENST00000370224.1_Silent_p.S122S|KCNQ2_ENST00000359689.1_Silent_p.S122S	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	122					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGCCCCCTCCGAGCTCTTCT	0.632																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(364-366)tcG>tcA		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						55.0	57.0	56.0					20																	62078121		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62078121C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.366G>A	20.37:g.62078121C>T						KCNQ2_ENST00000430658.1_Silent_p.S122S|KCNQ2_ENST00000357249.2_Silent_p.S122S|KCNQ2_ENST00000344425.5_Silent_p.S122S|KCNQ2_ENST00000359689.1_Silent_p.S122S|KCNQ2_ENST00000370226.1_Silent_p.S122S|KCNQ2_ENST00000359125.2_Silent_p.S122S|KCNQ2_ENST00000370221.1_Silent_p.S122S|KCNQ2_ENST00000370222.3_Silent_p.S122S|KCNQ2_ENST00000370224.1_Silent_p.S122S|KCNQ2_ENST00000360480.3_Silent_p.S122S|KCNQ2_ENST00000344462.3_Silent_p.S122S	p.S122S			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		2	542	-	all_cancers(38;1.24e-11)		122					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.366G>A	CCDS13520.1																																																																																				0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		6	39	0	0	0	1	0	6	39				
CAMSAP1	157922	broad.mit.edu	37	9	138707776	138707776	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138707776C>T	ENST00000389532.4	-	15	4411	c.4347G>A	c.(4345-4347)gcG>gcA	p.A1449A	CAMSAP1_ENST00000312405.6_Silent_p.A1171A|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.A1460A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1449					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATGCCGCCGACGCGGTCTCCC	0.612																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4345-4347)gcG>gcA		calmodulin regulated spectrin-associated protein 1							97.0	82.0	87.0					9																	138707776		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138707776C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4347G>A	9.37:g.138707776C>T						CAMSAP1_ENST00000312405.6_Silent_p.A1171A|CAMSAP1_ENST00000409386.3_Silent_p.A1460A|CAMSAP1_ENST00000483991.1_5'UTR	p.A1449A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	15	4411	-			1449					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.4347G>A	CCDS35176.2																																																																																				0.612	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	79	0	0	0	1	0	7	79				
SMPD4	55627	broad.mit.edu	37	2	130911013	130911013	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:130911013G>A	ENST00000409031.1	-	18	3169	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	SMPD4_ENST00000443958.2_Missense_Mutation_p.A338V|SMPD4_ENST00000431183.2_Missense_Mutation_p.A572V|SMPD4_ENST00000452225.2_Missense_Mutation_p.A415V|SMPD4_ENST00000339679.7_Missense_Mutation_p.A532V|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000351288.6_Missense_Mutation_p.A645V|SMPD4_ENST00000453750.1_Missense_Mutation_p.A423V|SMPD4_ENST00000426662.2_Missense_Mutation_p.A310V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	635					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTGAGCTGCGCTTCGCTGAG	0.567																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2020-2022)gCg>gTg		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						68.0	58.0	61.0					2																	130911013		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130911013G>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2021C>T	2.37:g.130911013G>A	ENSP00000386531:p.Ala674Val					SMPD4_ENST00000452225.2_Missense_Mutation_p.A415V|SMPD4_ENST00000339679.7_Missense_Mutation_p.A532V|SMPD4_ENST00000431183.2_Missense_Mutation_p.A572V|SMPD4_ENST00000426662.2_Missense_Mutation_p.A310V|SMPD4_ENST00000351288.6_Missense_Mutation_p.A645V|SMPD4_ENST00000453750.1_Missense_Mutation_p.A423V|SMPD4_ENST00000443958.2_Missense_Mutation_p.A338V	p.A674V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			18	3169	-	Colorectal(110;0.1)		635					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.2021C>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.54|14.54	2.565772|2.565772	0.45694|0.45694	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000449159|ENST00000439886	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.292525|.	0.37530|.	N|.	0.002052|.	T|T	0.57784|0.57784	0.2077|0.2077	L|L	0.53249|0.53249	1.67|1.67	0.31380|0.31380	N|N	0.679087|0.679087	D;P;P;P;P;D;P;D;D;D|.	0.63880|.	0.966;0.952;0.78;0.636;0.953;0.993;0.934;0.988;0.977;0.988|.	B;P;B;B;B;P;P;P;P;P|.	0.52159|.	0.324;0.544;0.089;0.2;0.211;0.691;0.586;0.457;0.517;0.544|.	T|T	0.62374|0.62374	-0.6868|-0.6868	9|5	0.42905|.	T|.	0.14|.	.|.	13.8586|13.8586	0.63545|0.63545	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	310;415;572;532;423;606;635;674;681;206|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	V|C	645;674;572;423;338;532;415;310;184|549	.|.	ENSP00000339721:A532V|.	A|R	-|-	2|1	0|0	SMPD4|SMPD4	130627483|130627483	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.025000|0.025000	0.11179|0.11179	4.146000|4.146000	0.58072|0.58072	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GCG|CGC		0.567	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		14	54	0	0	0	1	0	14	54				
ALPL	249	broad.mit.edu	37	1	21903985	21903985	+	Silent	SNP	C	C	T	rs373417343		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:21903985C>T	ENST00000374840.3	+	12	1669	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	ALPL_ENST00000539907.1_Silent_p.G396G|ALPL_ENST00000374830.1_Silent_p.G119G|ALPL_ENST00000425315.2_Silent_p.G473G|ALPL_ENST00000374832.1_Silent_p.G473G|ALPL_ENST00000374829.1_Silent_p.G119G|ALPL_ENST00000540617.1_Silent_p.G418G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	473			G -> S (in HOPS). {ECO:0000269|PubMed:10332035, ECO:0000269|PubMed:9781036}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	TGCTGCACGGCGTCCACGAGC	0.687													c|||	1	0.000199681	0.0	0.0	5008	,	,		15626	0.0		0.0	False		,,,				2504	0.001					ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1417-1419)ggC>ggT		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						52.0	48.0	49.0					1																	21903985		2203	4298	6501	SO:0001819	synonymous_variant	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21903985C>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1419C>T	1.37:g.21903985C>T						ALPL_ENST00000374832.1_Silent_p.G473G|ALPL_ENST00000540617.1_Silent_p.G418G|ALPL_ENST00000539907.1_Silent_p.G396G|ALPL_ENST00000425315.2_Silent_p.G473G|ALPL_ENST00000374829.1_Silent_p.G119G|ALPL_ENST00000374830.1_Silent_p.G119G	p.G473G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1669	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	473		G -> S (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.1419C>T	CCDS217.1																																																																																				0.687	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		10	63	0	0	0	1	0	10	63				
LHX2	9355	broad.mit.edu	37	9	126794853	126794853	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:126794853C>T	ENST00000373615.4	+	5	1827	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	363					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCCTCCAGCACGCCCACCACC	0.657																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(1087-1089)aCg>aTg		LIM homeobox 2							73.0	72.0	73.0					9																	126794853		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794853C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1088C>T	9.37:g.126794853C>T	ENSP00000362717:p.Thr363Met						p.T363M	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			5	1827	+			363					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1088C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824293	0.71143	.	.	ENSG00000106689	ENST00000373615	D	0.85171	-1.95	5.67	5.67	0.87782	.	0.058779	0.64402	D	0.000003	D	0.87557	0.6207	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.76494	0.999;0.999	D;P	0.63192	0.912;0.765	D	0.87086	0.2169	10	0.42905	T	0.14	.	18.7592	0.91843	0.0:1.0:0.0:0.0	.	363;363	B3KNJ5;P50458	.;LHX2_HUMAN	M	363	ENSP00000362717:T363M	ENSP00000362717:T363M	T	+	2	0	LHX2	125834674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	2.655000	0.90218	0.655000	0.94253	ACG		0.657	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			8	41	0	0	0	1	0	8	41				
TULP1	7287	broad.mit.edu	37	6	35471598	35471598	+	Silent	SNP	C	C	T	rs145986072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:35471598C>T	ENST00000229771.6	-	12	1219	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	TULP1_ENST00000322263.4_Silent_p.T327T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	380					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCAAAGACCGTGAAGCGGT	0.612																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1138-1140)acG>acA		tubby like protein 1		C		0,4406		0,0,2203	49.0	43.0	45.0		1140	-9.9	0.4	6	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TULP1	NM_003322.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		380/543	35471598	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35471598C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1140G>A	6.37:g.35471598C>T						TULP1_ENST00000322263.4_Silent_p.T327T	p.T380T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			12	1219	-			380					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.1140G>A	CCDS4807.1																																																																																				0.612	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			5	15	0	0	0	1	0	5	15				
TSTA3	7264	broad.mit.edu	37	8	144696973	144696973	+	Missense_Mutation	SNP	G	G	T	rs370546429		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144696973G>T	ENST00000425753.2	-	4	477	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	TSTA3_ENST00000529064.1_Missense_Mutation_p.P125Q	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	125					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)	p.P125L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTCATCTATCGGGTAGGTCGT	0.657																																						ENST00000425753.2																			1	Substitution - Missense(1)	p.P125L(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(373-375)cCg>cAg		tissue specific transplantation antigen P35B	NADH(DB00157)						91.0	83.0	86.0					8																	144696973		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696973G>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.374C>A	8.37:g.144696973G>T	ENSP00000398803:p.Pro125Gln					TSTA3_ENST00000529064.1_Missense_Mutation_p.P125Q	p.P125Q	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	477	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		125					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.374C>A	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751144	0.69533	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	4.85	4.85	0.62838	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99839	1.1060	10	0.87932	D	0	-11.8563	16.5412	0.84385	0.0:0.0:1.0:0.0	.	125;125	B4DZW9;Q13630	.;FCL_HUMAN	Q	125	ENSP00000435386:P125Q;ENSP00000398803:P125Q;ENSP00000431587:P125Q;ENSP00000437012:P125Q	ENSP00000398803:P125Q	P	-	2	0	TSTA3	144768116	1.000000	0.71417	0.888000	0.34837	0.414000	0.31173	9.202000	0.95026	2.235000	0.73313	0.467000	0.42956	CCG		0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		8	65	1	0	3.07112e-06	1	3.10961e-06	8	65				
LRRC29	26231	broad.mit.edu	37	16	67241597	67241597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67241597C>T	ENST00000409037.1	-	4	1479	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	LRRC29_ENST00000341546.3_Missense_Mutation_p.A195T|LRRC29_ENST00000409509.1_Missense_Mutation_p.A195T|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_Missense_Mutation_p.A195T			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	195										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGTCTGACGGCGGCCATGTTG	0.647																																						ENST00000409037.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(583-585)Gcc>Acc		leucine rich repeat containing 29							53.0	49.0	50.0					16																	67241597		2198	4300	6498	SO:0001583	missense	26231							g.chr16:67241597C>T	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.583G>A	16.37:g.67241597C>T	ENSP00000387318:p.Ala195Thr					LRRC29_ENST00000409509.1_Missense_Mutation_p.A195T|LRRC29_ENST00000393992.1_Missense_Mutation_p.A195T|LRRC29_ENST00000341546.3_Missense_Mutation_p.A195T	p.A195T			Q8WV35	LRC29_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	4	1479	-		Ovarian(137;0.0563)	195					B2RE92|Q9UKA0	Missense_Mutation	SNP	ENST00000409037.1	37	c.583G>A	CCDS32465.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502268	0.26949	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000433915	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;2.33	5.06	3.1	0.35709	.	0.284421	0.34411	N	0.003984	T	0.20981	0.0505	L	0.60455	1.87	0.09310	N	1	B	0.32604	0.377	B	0.19148	0.024	T	0.17776	-1.0358	10	0.15499	T	0.54	.	6.3114	0.21166	0.1945:0.7092:0.0:0.0963	.	195	Q8WV35	LRC29_HUMAN	T	195;195;195;195;147	ENSP00000386622:A195T;ENSP00000377561:A195T;ENSP00000387318:A195T;ENSP00000344364:A195T;ENSP00000413129:A147T	ENSP00000344364:A195T	A	-	1	0	LRRC29	65799098	0.161000	0.22892	0.017000	0.16124	0.036000	0.12997	0.637000	0.24659	0.534000	0.28695	-0.283000	0.09986	GCC		0.647	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163		7	48	0	0	0	1	0	7	48				
LAMB2	3913	broad.mit.edu	37	3	49161296	49161296	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49161296G>A	ENST00000418109.1	-	25	3826	c.3662C>T	c.(3661-3663)aCg>aTg	p.T1221M	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.T1221M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1221	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCACACCCGTCTGTTGCAA	0.632																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(3661-3663)aCg>aTg		laminin, beta 2 (laminin S)							45.0	45.0	45.0					3																	49161296		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161296G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3662C>T	3.37:g.49161296G>A	ENSP00000388325:p.Thr1221Met					LAMB2_ENST00000305544.4_Missense_Mutation_p.T1221M	p.T1221M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	3826	-			1221			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.3662C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331736	0.60853	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35421	1.31;1.31	5.84	4.78	0.61160	.	0.223959	0.44688	D	0.000424	T	0.40145	0.1105	L	0.50333	1.59	0.50171	D	0.999853	D	0.60160	0.987	P	0.50049	0.629	T	0.12116	-1.0560	10	0.46703	T	0.11	.	11.2918	0.49254	0.0765:0.1304:0.7931:0.0	.	1221	P55268	LAMB2_HUMAN	M	1221	ENSP00000388325:T1221M;ENSP00000307156:T1221M	ENSP00000307156:T1221M	T	-	2	0	LAMB2	49136300	0.998000	0.40836	0.994000	0.49952	0.886000	0.51366	2.698000	0.47068	2.768000	0.95171	0.561000	0.74099	ACG		0.632	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		11	66	0	0	0	1	0	11	66				
TET3	200424	broad.mit.edu	37	2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74328942C>T	ENST00000409262.3	+	9	4622	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1541					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						CACGCCACCACGCCGCTTAAG	0.662																																						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.(4621-4623)aCg>aTg		tet methylcytosine dioxygenase 3							27.0	32.0	30.0					2																	74328942		2072	4201	6273	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.chr2:74328942C>T		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.4622C>T	2.37:g.74328942C>T	ENSP00000386869:p.Thr1541Met						p.T1541M	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4622	+			1541					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4622C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894710	0.52121	.	.	ENSG00000187605	ENST00000409262	T	0.15834	2.39	5.18	5.18	0.71444	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.104024	0.64402	D	0.000003	T	0.43366	0.1244	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32188	-0.9916	10	0.87932	D	0	.	17.6308	0.88106	0.0:1.0:0.0:0.0	.	1541	O43151	TET3_HUMAN	M	1541	ENSP00000386869:T1541M	ENSP00000386869:T1541M	T	+	2	0	TET3	74182450	1.000000	0.71417	0.967000	0.41034	0.303000	0.27691	7.320000	0.79064	2.707000	0.92482	0.655000	0.94253	ACG		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			10	47	0	0	0	1	0	10	47				
MYO3A	53904	broad.mit.edu	37	10	26455002	26455002	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:26455002C>T	ENST00000265944.5	+	27	3172	c.3006C>T	c.(3004-3006)taC>taT	p.Y1002Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1002	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						CAAGGTACTACCTTCTCTGCT	0.502																																						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.(3004-3006)taC>taT		myosin IIIA							166.0	177.0	173.0					10																	26455002		2203	4300	6503	SO:0001819	synonymous_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.chr10:26455002C>T	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.3006C>T	10.37:g.26455002C>T						MYO3A_ENST00000543632.1_Intron	p.Y1002Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			27	3172	+			1002			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3006C>T	CCDS7148.1																																																																																				0.502	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		28	136	0	0	0	1	0	28	136				
NAE1	8883	broad.mit.edu	37	16	66852502	66852502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66852502G>A	ENST00000290810.3	-	8	647	c.550C>T	c.(550-552)Cga>Tga	p.R184*	NAE1_ENST00000379463.2_Nonsense_Mutation_p.R178*|NAE1_ENST00000359087.4_Nonsense_Mutation_p.R187*|NAE1_ENST00000564040.2_5'Flank|NAE1_ENST00000394074.2_Nonsense_Mutation_p.R95*			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	184					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTATCTAGTCGTAGATCCTCT	0.328																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(532-534)Cga>Tga		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						83.0	77.0	79.0					16																	66852502		2200	4299	6499	SO:0001587	stop_gained	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66852502G>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.550C>T	16.37:g.66852502G>A	ENSP00000290810:p.Arg184*					NAE1_ENST00000394074.2_Nonsense_Mutation_p.R95*|NAE1_ENST00000359087.4_Nonsense_Mutation_p.R187*|NAE1_ENST00000290810.3_Nonsense_Mutation_p.R184*	p.R178*	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	9	724	-		Ovarian(137;0.0563)	184					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Nonsense_Mutation	SNP	ENST00000290810.3	37	c.532C>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683088	0.88542	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.42	4.4	0.53042	.	0.101910	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9017	0.52687	0.0:0.0:0.6661:0.3339	.	.	.	.	X	187;184;178;95	.	ENSP00000290810:R184X	R	-	1	2	NAE1	65410003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.221000	0.58574	2.691000	0.91804	0.655000	0.94253	CGA		0.328	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		3	20	0	0	0	1	0	3	20				
PGBD4	161779	broad.mit.edu	37	15	34396266	34396266	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34396266G>A	ENST00000397766.2	+	1	1993	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	512										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TCCTTGCTCCGATGATGTCAC	0.488																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1534-1536)Gat>Aat		piggyBac transposable element derived 4							74.0	62.0	66.0					15																	34396266		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396266G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1534G>A	15.37:g.34396266G>A	ENSP00000380872:p.Asp512Asn						p.D512N	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1993	+		all_lung(180;1.76e-08)	512					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1534G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.677648	0.47886	.	.	ENSG00000182405	ENST00000397766	T	0.16897	2.31	1.02	1.02	0.19986	.	0.584031	0.12934	U	0.427100	T	0.08268	0.0206	N	0.19112	0.55	0.20873	N	0.999839	B	0.30634	0.288	B	0.17979	0.02	T	0.33523	-0.9865	10	0.19590	T	0.45	.	7.8782	0.29605	0.0:0.0:1.0:0.0	.	512	Q96DM1	PGBD4_HUMAN	N	512	ENSP00000380872:D512N	ENSP00000380872:D512N	D	+	1	0	PGBD4	32183558	0.966000	0.33281	0.143000	0.22291	0.438000	0.31896	0.096000	0.15147	0.859000	0.35456	0.306000	0.20318	GAT		0.488	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			4	29	0	0	0	1	0	4	29				
ARHGAP30	257106	broad.mit.edu	37	1	161039354	161039354	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:161039354C>T	ENST00000368013.3	-	1	381	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D21N|PVRL4_ENST00000486694.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	21	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCTGCAAGTCGCACCCAAAA	0.637																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(61-63)Gac>Aac		Rho GTPase activating protein 30							98.0	89.0	92.0					1																	161039354		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161039354C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.61G>A	1.37:g.161039354C>T	ENSP00000356992:p.Asp21Asn					ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D21N	p.D21N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		1	381	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.61G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195641	0.78902	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.12255	2.7;2.7	4.82	4.82	0.62117	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.80332	2.49	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.51701	0.652;0.677	T	0.02505	-1.1149	10	0.62326	D	0.03	.	15.4472	0.75240	0.0:1.0:0.0:0.0	.	21;21	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	N	21	ENSP00000356995:D21N;ENSP00000356992:D21N	ENSP00000356992:D21N	D	-	1	0	ARHGAP30	159305978	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.703000	0.74633	2.479000	0.83701	0.655000	0.94253	GAC		0.637	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		19	73	0	0	0	1	0	19	73				
WFS1	7466	broad.mit.edu	37	4	6292992	6292992	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6292992C>T	ENST00000226760.1	+	5	699	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	WFS1_ENST00000503569.1_Missense_Mutation_p.R177C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	177					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAGGGCCGTGCGCAAGGCAGC	0.612																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(529-531)Cgc>Tgc		Wolfram syndrome 1 (wolframin)							97.0	83.0	88.0					4																	6292992		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6292992C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.529C>T	4.37:g.6292992C>T	ENSP00000226760:p.Arg177Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R177C	p.R177C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	5	699	+			177					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.529C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547475	0.65311	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.96073	-3.9;-3.9	4.19	4.19	0.49359	.	0.102848	0.64402	D	0.000009	D	0.97188	0.9081	M	0.79693	2.465	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.97292	0.9925	10	0.87932	D	0	-28.867	10.8683	0.46869	0.3113:0.6887:0.0:0.0	.	177	O76024	WFS1_HUMAN	C	177	ENSP00000423337:R177C;ENSP00000226760:R177C	ENSP00000226760:R177C	R	+	1	0	WFS1	6343893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.072000	0.41510	2.175000	0.68902	0.561000	0.74099	CGC		0.612	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			13	55	0	0	0	1	0	13	55				
CAMSAP1	157922	broad.mit.edu	37	9	138714575	138714575	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138714575G>A	ENST00000389532.4	-	11	1996	c.1932C>T	c.(1930-1932)cgC>cgT	p.R644R	CAMSAP1_ENST00000312405.6_Silent_p.R366R|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.R655R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	644					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TATTCAAGTCGCGACTGCCAG	0.587																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1930-1932)cgC>cgT		calmodulin regulated spectrin-associated protein 1							70.0	76.0	74.0					9																	138714575		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138714575G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1932C>T	9.37:g.138714575G>A						CAMSAP1_ENST00000312405.6_Silent_p.R366R|CAMSAP1_ENST00000409386.3_Silent_p.R655R|CAMSAP1_ENST00000483991.1_5'UTR	p.R644R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1996	-			644					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.1932C>T	CCDS35176.2																																																																																				0.587	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		11	39	0	0	0	1	0	11	39				
NPHP3	27031	broad.mit.edu	37	3	132403474	132403474	+	Missense_Mutation	SNP	C	C	T	rs138630766		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:132403474C>T	ENST00000337331.5	-	24	3580	c.3494G>A	c.(3493-3495)cGg>cAg	p.R1165Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCACGTCTCCGAATATCTAA	0.388																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3493-3495)cGg>cAg		nephronophthisis 3 (adolescent)		C	GLN/ARG	0,4406		0,0,2203	126.0	123.0	124.0		3494	5.8	1.0	3	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NPHP3	NM_153240.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1165/1331	132403474	1,13005	2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132403474C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3494G>A	3.37:g.132403474C>T	ENSP00000338766:p.Arg1165Gln					NPHP3_ENST00000326682.8_3'UTR	p.R1165Q	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			24	3580	-			1165					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3494G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152689	0.94645	0.0	1.16E-4	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000512094;ENST00000337331	T;T	0.75938	-0.03;-0.98	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.82388	-0.0482	10	0.51188	T	0.08	-15.9301	20.0545	0.97645	0.0:1.0:0.0:0.0	.	1165;47	Q7Z494;Q7Z491	NPHP3_HUMAN;.	Q	445;227;19;1165	ENSP00000427666:R19Q;ENSP00000338766:R1165Q	ENSP00000338766:R1165Q	R	-	2	0	NPHP3	133886164	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	CGG		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		3	29	0	0	0	1	0	3	29				
ZFYVE28	57732	broad.mit.edu	37	4	2273484	2273484	+	Silent	SNP	C	C	T	rs549587391		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2273484C>T	ENST00000290974.2	-	11	2685	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	ZFYVE28_ENST00000511071.1_Silent_p.A752A|ZFYVE28_ENST00000508471.1_Silent_p.A87A|ZFYVE28_ENST00000515312.1_Silent_p.A712A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	782					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						CCTCCAAGGCCGCACTCCGCA	0.627													c|||	1	0.000199681	0.0	0.0014	5008	,	,		18772	0.0		0.0	False		,,,				2504	0.0					ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2344-2346)gcG>gcA		zinc finger, FYVE domain containing 28							95.0	97.0	96.0					4																	2273484		2203	4300	6503	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2273484C>T	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.2346G>A	4.37:g.2273484C>T						ZFYVE28_ENST00000508471.1_Silent_p.A87A|ZFYVE28_ENST00000511071.1_Silent_p.A752A|ZFYVE28_ENST00000515312.1_Silent_p.A712A	p.A782A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			11	2685	-			782					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.2346G>A	CCDS33942.1																																																																																				0.627	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		29	139	0	0	0	1	0	29	139				
ARHGEF19	128272	broad.mit.edu	37	1	16534702	16534702	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16534702T>C	ENST00000270747.3	-	3	567	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	144					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGCTGGTACACCCGCAT	0.682																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(430-432)tAc>tGc		Rho guanine nucleotide exchange factor (GEF) 19							40.0	44.0	43.0					1																	16534702		2203	4300	6503	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534702T>C	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.431A>G	1.37:g.16534702T>C	ENSP00000270747:p.Tyr144Cys					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.Y144C	p.Y144C	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	567	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	144					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.431A>G	CCDS170.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120883	0.77436	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.62639	0.01;0.01	5.21	5.21	0.72293	.	0.098018	0.41938	D	0.000790	T	0.68421	0.2999	L	0.34521	1.04	0.37572	D	0.919463	D	0.89917	1.0	D	0.87578	0.998	T	0.72609	-0.4241	10	0.48119	T	0.1	.	11.7477	0.51830	0.0:0.0:0.0:1.0	.	144	Q8IW93	ARHGJ_HUMAN	C	144	ENSP00000270747:Y144C;ENSP00000396001:Y144C	ENSP00000270747:Y144C	Y	-	2	0	ARHGEF19	16407289	0.999000	0.42202	1.000000	0.80357	0.891000	0.51852	4.582000	0.60957	2.091000	0.63221	0.459000	0.35465	TAC		0.682	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		6	36	0	0	0	1	0	6	36				
PCDH9	5101	broad.mit.edu	37	13	67801068	67801068	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:67801068G>A	ENST00000377865.2	-	1	1639	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A502V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A502V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A502V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A502V			Q9HC56	PCDH9_HUMAN	protocadherin 9	502	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)		AACAATGTCTGCATTTTTCCC	0.423																																						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.(1504-1506)gCa>gTa		protocadherin 9							112.0	115.0	114.0					13																	67801068		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801068G>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.1505C>T	13.37:g.67801068G>A	ENSP00000367096:p.Ala502Val					PCDH9_ENST00000377861.3_Missense_Mutation_p.A502V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A502V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A502V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A502V	p.A502V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2196	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	502			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1505C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656108	0.67586	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.048099	0.85682	D	0.000000	T	0.63733	0.2536	H	0.96142	3.775	0.80722	D	1	B;D;B;P	0.89917	0.438;1.0;0.391;0.744	P;D;P;P	0.81914	0.513;0.995;0.447;0.768	T	0.74287	-0.3714	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	502;502;502;502	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	502	ENSP00000442186:A502V;ENSP00000367096:A502V;ENSP00000401699:A502V;ENSP00000332060:A502V;ENSP00000367092:A502V	ENSP00000332060:A502V	A	-	2	0	PCDH9	66699069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		10	59	0	0	0	1	0	10	59				
PIK3R1	5295	broad.mit.edu	37	5	67588988	67588988	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:67588988C>T	ENST00000521381.1	+	9	1695	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	PIK3R1_ENST00000521657.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A360V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.A60V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000336483.5_Missense_Mutation_p.A90V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	360	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTACGAGATGCGTCTACTAAA	0.368			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1078-1080)gCg>gTg		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						94.0	94.0	94.0					5																	67588988		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67588988C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1079C>T	5.37:g.67588988C>T	ENSP00000428056:p.Ala360Val	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Missense_Mutation_p.A360V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.A90V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.A60V	p.A360V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1695	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	360			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1079C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533224	0.96460	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483;ENST00000519025	D;D;D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.11	5.11	0.69529	SH2 motif (5);	0.050162	0.85682	D	0.000000	D	0.95506	0.8540	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.993;0.997	D	0.95831	0.8858	10	0.87932	D	0	-19.7485	19.0871	0.93209	0.0:1.0:0.0:0.0	.	30;90;60;360	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	V	360;360;360;360;90;90;60;90;33	ENSP00000428056:A360V;ENSP00000429277:A360V;ENSP00000379855:A360V;ENSP00000274335:A360V;ENSP00000430126:A90V;ENSP00000429766:A90V;ENSP00000323512:A60V;ENSP00000338554:A90V;ENSP00000429156:A33V	ENSP00000274335:A360V	A	+	2	0	PIK3R1	67624744	1.000000	0.71417	0.927000	0.36925	0.920000	0.55202	7.609000	0.82925	2.821000	0.97095	0.484000	0.47621	GCG		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		3	24	0	0	0	1	0	3	24				
SNHG24	101929369	broad.mit.edu	37	14	101447365	101447365	+	lincRNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:101447365C>T	ENST00000554693.2	+	0	635				SNORD114-21_ENST00000606412.1_RNA|SNORD114-22_ENST00000365423.1_RNA|SNORD114-20_ENST00000365178.1_RNA|SNORD114-23_ENST00000363536.1_RNA|SNORD113_ENST00000364166.1_RNA|SNORD113_ENST00000364840.1_RNA																							CTACTGGTGGCGTATGAGTCA	0.388																																						ENST00000554693.2																			0																				222.0	207.0	211.0					14																	101447365		876	1991	2867			0							g.chr14:101447365C>T																													14.37:g.101447365C>T						SNORD114-20_ENST00000365178.1_RNA								0	635	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.388	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			15	97	0	0	0	1	0	15	97				
PCDHGA7	56108	broad.mit.edu	37	5	140764615	140764615	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140764615C>T	ENST00000518325.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGGCTGCGGCGCTGGCA	0.617																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2149-2151)Cgg>Tgg									54.0	59.0	57.0					5																	140764615		2202	4300	6502	SO:0001583	missense	0							g.chr5:140764615C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2149C>T	5.37:g.140764615C>T	ENSP00000430024:p.Arg717Trp					PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R717W	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2149	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2149C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.692318	0.30052	.	.	ENSG00000253537	ENST00000518325	T	0.54866	0.55	4.93	-9.85	0.00476	.	.	.	.	.	T	0.39835	0.1093	M	0.67700	2.07	0.09310	N	1	B;B	0.28552	0.215;0.1	B;B	0.27715	0.082;0.046	T	0.33548	-0.9864	9	0.52906	T	0.07	.	3.6286	0.08123	0.398:0.3526:0.0711:0.1782	.	717;717	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	W	717	ENSP00000430024:R717W	ENSP00000430024:R717W	R	+	1	2	PCDHGA7	140744799	0.000000	0.05858	0.061000	0.19648	0.550000	0.35303	-1.498000	0.02287	-2.019000	0.00942	-0.300000	0.09419	CGG		0.617	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	46	0	0	0	1	0	7	46				
ABHD17A	81926	broad.mit.edu	37	19	1880951	1880951	+	Intron	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1880951G>A	ENST00000292577.7	-	2	766				ABHD17A_ENST00000590661.1_Intron|ABHD17A_ENST00000250974.9_Silent_p.G143G	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A							extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CCCAGCTCTTGCCCAGCAGGC	0.662																																						ENST00000250974.9																			0											c.(427-429)ggC>ggT		abhydrolase domain containing 17A							31.0	37.0	35.0					19																	1880951		2201	4299	6500	SO:0001627	intron_variant	81926							g.chr19:1880951G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.332+282C>T	19.37:g.1880951G>A						ABHD17A_ENST00000292577.7_Intron|ABHD17A_ENST00000590661.1_Intron	p.G143G	NM_031213.3	NP_112490.3					3	748	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.429C>T	CCDS45902.1																																																																																				0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		5	35	0	0	0	1	0	5	35				
ZMYND12	84217	broad.mit.edu	37	1	42915659	42915659	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42915659C>T	ENST00000372565.3	-	2	451	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ZMYND12_ENST00000433602.2_Silent_p.A8A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	61						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGGAAGTGCGCAGTGGAAT	0.517																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(181-183)cGc>cAc		zinc finger, MYND-type containing 12							127.0	109.0	115.0					1																	42915659		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42915659C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.182G>A	1.37:g.42915659C>T	ENSP00000361646:p.Arg61His					ZMYND12_ENST00000433602.2_Silent_p.A8A	p.R61H	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			2	451	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	61					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.182G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712611	0.89112	.	.	ENSG00000066185	ENST00000372565	T	0.54071	0.59	5.47	5.47	0.80525	.	0.103076	0.64402	D	0.000002	T	0.73560	0.3602	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76594	-0.2902	9	0.72032	D	0.01	-13.7488	16.8089	0.85713	0.0:1.0:0.0:0.0	.	61	Q9H0C1	ZMY12_HUMAN	H	61	ENSP00000361646:R61H	ENSP00000361646:R61H	R	-	2	0	ZMYND12	42688246	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.047000	0.57383	2.575000	0.86900	0.313000	0.20887	CGC		0.517	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		10	52	0	0	0	1	0	10	52				
SACS	26278	broad.mit.edu	37	13	23909565	23909565	+	Missense_Mutation	SNP	G	G	A	rs371652968		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23909565G>A	ENST00000382292.3	-	9	8723	c.8450C>T	c.(8449-8451)aCg>aTg	p.T2817M	SACS_ENST00000402364.1_Missense_Mutation_p.T2067M|SACS_ENST00000382298.3_Missense_Mutation_p.T2817M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2817					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTAGCCACGTAGTAAGATT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		19226	0.0		0.0	False		,,,				2504	0.001					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8449-8451)aCg>aTg		spastic ataxia of Charlevoix-Saguenay (sacsin)		G	MET/THR	0,4406		0,0,2203	100.0	94.0	96.0		8450	5.7	0.0	13		96	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2817/4580	23909565	1,13003	2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909565G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8450C>T	13.37:g.23909565G>A	ENSP00000371729:p.Thr2817Met					SACS_ENST00000402364.1_Missense_Mutation_p.T2067M|SACS_ENST00000382292.3_Missense_Mutation_p.T2817M	p.T2817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9038	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2817					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8450C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570643	0.86542	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.24;-2.38;-2.24	5.65	5.65	0.86999	.	0.107611	0.64402	D	0.000007	D	0.88202	0.6373	L	0.50333	1.59	0.44899	D	0.997915	D	0.54047	0.964	B	0.43623	0.425	D	0.88972	0.3401	10	0.56958	D	0.05	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	2817	Q9NZJ4	SACS_HUMAN	M	2817;2067;2817	ENSP00000371729:T2817M;ENSP00000385844:T2067M;ENSP00000371735:T2817M	ENSP00000371729:T2817M	T	-	2	0	SACS	22807565	1.000000	0.71417	0.044000	0.18714	0.988000	0.76386	7.500000	0.81588	2.684000	0.91462	0.555000	0.69702	ACG		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	39	0	0	0	1	0	5	39				
WAPAL	23063	broad.mit.edu	37	10	88277682	88277682	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88277682G>A	ENST00000298767.5	-	2	617	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	49	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGAAATTGGGCCTCTTCTGC	0.403																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(145-147)Ccc>Tcc		wings apart-like homolog (Drosophila)							81.0	80.0	80.0					10																	88277682		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88277682G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.145C>T	10.37:g.88277682G>A	ENSP00000298767:p.Pro49Ser						p.P49S	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			2	617	-			49			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.145C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474808	0.63737	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.31510	1.49	5.41	5.41	0.78517	.	0.142950	0.48286	D	0.000191	T	0.54822	0.1882	L	0.58101	1.795	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;0.994;0.994;0.998	T	0.56245	-0.8011	10	0.87932	D	0	.	19.1959	0.93689	0.0:0.0:1.0:0.0	.	134;49;49;92	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	S	134;49;134	ENSP00000298767:P49S	ENSP00000298767:P49S	P	-	1	0	WAPAL	88267662	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.432000	0.73400	2.549000	0.85964	0.650000	0.86243	CCC		0.403	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		6	31	0	0	0	1	0	6	31				
KRT80	144501	broad.mit.edu	37	12	52567427	52567427	+	Missense_Mutation	SNP	G	G	A	rs565212849		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52567427G>A	ENST00000394815.2	-	5	885	c.788C>T	c.(787-789)gCg>gTg	p.A263V	KRT80_ENST00000313234.5_Missense_Mutation_p.A263V	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	263	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGAGCCGCGACGGCGTC	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17599	0.0		0.0	False		,,,				2504	0.0				GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(787-789)gCg>gTg		keratin 80							80.0	74.0	76.0					12																	52567427		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567427G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.788C>T	12.37:g.52567427G>A	ENSP00000378292:p.Ala263Val					KRT80_ENST00000394815.2_Missense_Mutation_p.A263V	p.A263V	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	885	-			263			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.788C>T	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156807	0.38119	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89681	-2.55;-2.55	4.23	2.36	0.29203	Filament (1);	0.000000	0.37761	N	0.001948	D	0.89921	0.6855	M	0.93150	3.385	0.41415	D	0.987764	P;P;P	0.41710	0.489;0.545;0.76	B;B;B	0.36030	0.138;0.216;0.191	D	0.89199	0.3556	10	0.66056	D	0.02	.	10.8036	0.46504	0.1578:0.0:0.8422:0.0	.	263;263;298	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	V	263	ENSP00000369361:A263V;ENSP00000378292:A263V	ENSP00000369361:A263V	A	-	2	0	KRT80	50853694	0.991000	0.36638	0.567000	0.28434	0.214000	0.24535	3.337000	0.52120	0.534000	0.28695	0.561000	0.74099	GCG		0.657	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		19	89	0	0	0	1	0	19	89				
TP53BP1	7158	broad.mit.edu	37	15	43708462	43708462	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:43708462C>T	ENST00000263801.3	-	22	5071	c.4819G>A	c.(4819-4821)Gca>Aca	p.A1607T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1562T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1612T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1607					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTTACTGCTTCATAGGGG	0.478								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4819-4821)Gca>Aca	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							166.0	141.0	149.0					15																	43708462		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43708462C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4819G>A	15.37:g.43708462C>T	ENSP00000263801:p.Ala1607Thr					TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1562T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1612T	p.A1607T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	22	5071	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1607					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4819G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638035	0.87760	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04275	3.67;3.66;3.69;3.66	5.57	4.59	0.56863	.	0.114018	0.64402	D	0.000013	T	0.05960	0.0155	N	0.14661	0.345	0.38844	D	0.956135	D;B;B;B	0.56521	0.976;0.127;0.417;0.201	P;B;B;B	0.52598	0.703;0.03;0.066;0.066	T	0.53634	-0.8411	10	0.29301	T	0.29	-15.1895	13.1226	0.59336	0.0:0.6266:0.3734:0.0	.	1612;1607;1612;1612	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	1607;1612;1562;1612	ENSP00000263801:A1607T;ENSP00000371475:A1612T;ENSP00000371470:A1562T;ENSP00000393497:A1612T	ENSP00000263801:A1607T	A	-	1	0	TP53BP1	41495754	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.574000	0.60900	2.785000	0.95823	0.591000	0.81541	GCA		0.478	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			10	57	0	0	0	1	0	10	57				
ARHGAP10	79658	broad.mit.edu	37	4	148886179	148886179	+	Silent	SNP	C	C	T	rs372408519		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:148886179C>T	ENST00000336498.3	+	17	1694	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ARHGAP10_ENST00000414545.2_Silent_p.S134S	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1248					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)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		tGGAAGAAAGCGGCAGCCCAG	0.308																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1453-1455)agC>agT		Rho GTPase activating protein 10		C		0,4406		0,0,2203	53.0	53.0	53.0		1455	-4.6	0.9	4		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP10	NM_024605.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		485/787	148886179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148886179C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1455C>T	4.37:g.148886179C>T						ARHGAP10_ENST00000414545.2_Silent_p.S134S	p.S485S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	17	1694	+	all_hematologic(180;0.151)	Renal(17;0.0166)	485			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	c.1455C>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	2.057	-0.416261	0.04766	0.0	1.16E-4	ENSG00000071205	ENST00000507661	.	.	.	5.55	-4.55	0.03441	.	.	.	.	.	T	0.61311	0.2337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59762	-0.7393	4	.	.	.	.	12.6457	0.56733	0.0:0.3687:0.0:0.6313	.	.	.	.	W	163	.	.	R	+	1	2	ARHGAP10	149105629	0.994000	0.37717	0.906000	0.35671	0.302000	0.27658	0.191000	0.17076	-1.170000	0.02769	-0.997000	0.02515	CGG		0.308	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	14	0	0	0	1	0	4	14				
TG	7038	broad.mit.edu	37	8	133909950	133909950	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:133909950G>A	ENST00000220616.4	+	12	3098	c.3058G>A	c.(3058-3060)Gcc>Acc	p.A1020T	TG_ENST00000377869.1_Missense_Mutation_p.A1020T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1020	Thyroglobulin type-1 8. {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)				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)		TGGAGCATCCGCCCTTCTGCG	0.587																																						ENST00000220616.4																			0				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.(3058-3060)Gcc>Acc		thyroglobulin							76.0	79.0	78.0					8																	133909950		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133909950G>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.3058G>A	8.37:g.133909950G>A	ENSP00000220616:p.Ala1020Thr					TG_ENST00000377869.1_Missense_Mutation_p.A1020T	p.A1020T	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)	12	3098	+	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)	1020			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3058G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197099	0.22037	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63580	-0.05;-0.05	5.59	-9.09	0.00717	Thyroglobulin type-1 (2);	2.205680	0.01789	N	0.032225	T	0.47544	0.1451	L	0.49571	1.57	0.09310	N	1	B	0.21309	0.054	B	0.09377	0.004	T	0.19224	-1.0312	10	0.15066	T	0.55	.	7.1289	0.25488	0.4485:0.0:0.1225:0.429	.	1020	P01266	THYG_HUMAN	T	1020	ENSP00000367100:A1020T;ENSP00000220616:A1020T	ENSP00000220616:A1020T	A	+	1	0	TG	133979132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.267000	0.00533	-2.012000	0.00950	-0.345000	0.07892	GCC		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	78	0	0	0	1	0	20	78				
ZFHX3	463	broad.mit.edu	37	16	72829811	72829811	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72829811A>G	ENST00000268489.5	-	9	7442	c.6770T>C	c.(6769-6771)tTa>tCa	p.L2257S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1343S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2257					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)				GAAGTCCTGTAAGACCCTCAG	0.493																																						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.(6769-6771)tTa>tCa		zinc finger homeobox 3							200.0	187.0	191.0					16																	72829811		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.chr16:72829811A>G	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.6770T>C	16.37:g.72829811A>G	ENSP00000268489:p.Leu2257Ser					ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1343S	p.L2257S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7442	-		Ovarian(137;0.13)	2257					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6770T>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.767119	0.49574	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99586	-6.23;-6.23	5.79	5.79	0.91817	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.39210	N	0.001434	D	0.99829	0.9923	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96570	0.9422	10	0.87932	D	0	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	2257	Q15911	ZFHX3_HUMAN	S	2257;1343	ENSP00000268489:L2257S;ENSP00000438926:L1343S	ENSP00000268489:L2257S	L	-	2	0	ZFHX3	71387312	1.000000	0.71417	0.175000	0.22980	0.985000	0.73830	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	TTA		0.493	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		19	109	0	0	0	1	0	19	109				
USP49	25862	broad.mit.edu	37	6	41774068	41774068	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:41774068G>A	ENST00000394253.3	-	3	983	c.654C>T	c.(652-654)gaC>gaT	p.D218D	USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D|USP49_ENST00000373006.1_Silent_p.D218D|USP49_ENST00000373009.3_Silent_p.D218D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ccgggcccgcgtcgcggggcg	0.771																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(652-654)gaC>gaT		ubiquitin specific peptidase 49							5.0	6.0	6.0					6																	41774068		1471	3166	4637	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774068G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.654C>T	6.37:g.41774068G>A						USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000373006.1_Silent_p.D218D|USP49_ENST00000373009.3_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D	p.D218D			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	983	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		218					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.654C>T																																																																																					0.771	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		3	20	0	0	0	1	0	3	20				
GIGYF2	26058	broad.mit.edu	37	2	233710483	233710483	+	Missense_Mutation	SNP	A	A	T	rs200196994		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233710483A>T	ENST00000409547.1	+	28	3658	c.3347A>T	c.(3346-3348)gAa>gTa	p.E1116V	GIGYF2_ENST00000373566.3_Missense_Mutation_p.E1138V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1138V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1110V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1137V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1116					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1116V(2)|p.E1137V(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGAAAGTAGAAGAAGAAGAA	0.378																																						ENST00000373566.3																			4	Substitution - Missense(4)	p.E1116V(2)|p.E1137V(2)	endometrium(4)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3412-3414)gAa>gTa		GRB10 interacting GYF protein 2		A	VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU	1,4405	2.1+/-5.4	0,1,2202	104.0	107.0	106.0		3347,3410,3329,3347	5.7	1.0	2		106	0,8600		0,0,4300	yes	missense,missense,missense,missense	GIGYF2	NM_001103146.1,NM_001103147.1,NM_001103148.1,NM_015575.3	121,121,121,121	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1116/1300,1137/1321,1110/1294,1116/1300	233710483	1,13005	2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233710483A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3347A>T	2.37:g.233710483A>T	ENSP00000386537:p.Glu1116Val					GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1137V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1110V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1138V	p.E1138V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3610	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1116					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3413A>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494403	0.85069	2.27E-4	0.0	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.7	5.7	0.88788	.	0.086721	0.85682	N	0.000000	D	0.84575	0.5502	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62491	0.903;0.903;0.903	D	0.86504	0.1805	10	0.72032	D	0.01	-11.0167	15.9733	0.80036	1.0:0.0:0.0:0.0	.	1137;1116;1110	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	V	1138;1116;1138;1116;1110;1137;145	ENSP00000362667:E1138V;ENSP00000362664:E1116V;ENSP00000386765:E1138V;ENSP00000386537:E1116V;ENSP00000387070:E1110V;ENSP00000387170:E1137V	ENSP00000362664:E1116V	E	+	2	0	GIGYF2	233418727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.164000	0.68074	0.533000	0.62120	GAA		0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	46	0	0	0	1	0	4	46				
FAT4	79633	broad.mit.edu	37	4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					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						TAATCAGTGGTATGCCTACAG	0.577																																						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.(13258-13260)Tat>Cat		FAT atypical cadherin 4							128.0	124.0	125.0					4																	126411235		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411235T>C	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.13258T>C	4.37:g.126411235T>C	ENSP00000377862:p.Tyr4420His					FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	p.Y4420H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13271	+			4420					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13258T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	12.53	1.967016	0.34754	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74526	-0.68;-0.85	5.17	2.75	0.32379	.	0.000000	0.31821	U	0.007003	T	0.49830	0.1580	N	0.12182	0.205	0.46298	D	0.998974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.25813	-1.0121	10	0.13470	T	0.59	.	7.195	0.25847	0.0:0.2462:0.0:0.7538	.	2661;4420;4419	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4420;2661	ENSP00000377862:Y4420H;ENSP00000335169:Y2661H	ENSP00000335169:Y2661H	Y	+	1	0	FAT4	126630685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.802000	0.38853	0.796000	0.33947	0.459000	0.35465	TAT		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	129	0	0	0	1	0	23	129				
CCDC114	93233	broad.mit.edu	37	19	48801323	48801323	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48801323A>G	ENST00000315396.7	-	12	2007	c.1325T>C	c.(1324-1326)cTa>cCa	p.L442P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	442					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCCAGCACTAGGAGGGCAGC	0.692																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1324-1326)cTa>cCa		coiled-coil domain containing 114							42.0	43.0	43.0					19																	48801323		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48801323A>G	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1325T>C	19.37:g.48801323A>G	ENSP00000318429:p.Leu442Pro						p.L442P	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	12	2007	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	442					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1325T>C	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376966	0.42105	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.39	3.39	0.38822	.	.	.	.	.	T	0.28699	0.0711	L	0.32530	0.975	0.26234	N	0.978966	D;D	0.69078	0.997;0.99	P;P	0.62184	0.899;0.836	T	0.04242	-1.0966	9	0.44086	T	0.13	-7.1742	8.4895	0.33091	1.0:0.0:0.0:0.0	.	442;442	Q96M63;Q96M63-5	CC114_HUMAN;.	P	442	ENSP00000318429:L442P	ENSP00000318429:L442P	L	-	2	0	CCDC114	53493135	0.003000	0.15002	0.028000	0.17463	0.007000	0.05969	1.147000	0.31602	1.774000	0.52232	0.533000	0.62120	CTA		0.692	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		15	57	0	0	0	1	0	15	57				
ELMO1	9844	broad.mit.edu	37	7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:36927225G>A	ENST00000310758.4	-	18	2301	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ELMO1_ENST00000341056.3_Missense_Mutation_p.R254C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72C|ELMO1_ENST00000448602.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R72C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	552					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)	p.R552S(1)		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						CGGTTCAGGCGTTGCTGTTTG	0.473																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.R552S(1)	lung(1)	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.(1654-1656)Cgc>Tgc		engulfment and cell motility 1							165.0	148.0	154.0					7																	36927225		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.chr7:36927225G>A	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.1654C>T	7.37:g.36927225G>A	ENSP00000312185:p.Arg552Cys					ELMO1_ENST00000448602.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72C|ELMO1_ENST00000341056.3_Missense_Mutation_p.R254C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R72C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552C	p.R552C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			18	2301	-			552					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1654C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722158	0.89298	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.97	5.97	0.96955	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80690	-0.1270	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	552	Q92556	ELMO1_HUMAN	C	254;72;552;456;72;552;552	ENSP00000342142:R254C;ENSP00000379360:R72C;ENSP00000312185:R552C;ENSP00000379355:R72C;ENSP00000406952:R552C;ENSP00000394458:R552C	ENSP00000312185:R552C	R	-	1	0	ELMO1	36893750	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	4.280000	0.58959	2.828000	0.97474	0.655000	0.94253	CGC		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		6	46	0	0	0	1	0	6	46				
HS6ST1	9394	broad.mit.edu	37	2	129026305	129026305	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:129026305G>A	ENST00000259241.6	-	2	680	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	223					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGTAGCAGGGCGGCAGCTCC	0.657																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(667-669)Ccc>Tcc		heparan sulfate 6-O-sulfotransferase 1							49.0	61.0	57.0					2																	129026305		2168	4280	6448	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026305G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.667C>T	2.37:g.129026305G>A	ENSP00000259241:p.Pro223Ser						p.P223S	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	680	-	Colorectal(110;0.1)		223					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.667C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	7.639	0.680541	0.14907	.	.	ENSG00000136720	ENST00000259241	T	0.39997	1.05	4.85	3.96	0.45880	.	0.108207	0.64402	D	0.000003	T	0.15869	0.0382	N	0.03268	-0.37	0.42346	D	0.992358	B	0.06786	0.001	B	0.10450	0.005	T	0.13764	-1.0497	9	.	.	.	-0.4404	4.5805	0.12257	0.3255:0.0:0.6745:0.0	.	223	O60243	H6ST1_HUMAN	S	223	ENSP00000259241:P223S	.	P	-	1	0	HS6ST1	128742775	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	3.926000	0.56491	2.235000	0.73313	0.462000	0.41574	CCC		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		19	94	0	0	0	1	0	19	94				
NRDE2	55051	broad.mit.edu	37	14	90754822	90754822	+	Missense_Mutation	SNP	G	G	A	rs200896137	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:90754822G>A	ENST00000354366.3	-	11	3129	c.2897C>T	c.(2896-2898)aCg>aTg	p.T966M	NRDE2_ENST00000357904.3_Missense_Mutation_p.T735M	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	966																	CAGCAGGCTCGTGTGCATCAG	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		18407	0.002		0.0	False		,,,				2504	0.0					ENST00000354366.3																			0											c.(2896-2898)aCg>aTg		NRDE-2, necessary for RNA interference, domain containing							89.0	85.0	86.0					14																	90754822		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90754822G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2897C>T	14.37:g.90754822G>A	ENSP00000346335:p.Thr966Met					NRDE2_ENST00000357904.3_Missense_Mutation_p.T735M	p.T966M	NM_017970.3	NP_060440.2					11	3129	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2897C>T	CCDS9890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.07	1.530403	0.27387	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.30714	1.52;1.52	4.85	4.85	0.62838	.	0.121470	0.56097	D	0.000031	T	0.36552	0.0971	M	0.67953	2.075	0.39660	D	0.970593	P;P	0.50369	0.934;0.934	B;B	0.42214	0.23;0.38	T	0.37314	-0.9711	10	0.37606	T	0.19	-19.8708	18.1546	0.89687	0.0:0.0:1.0:0.0	.	735;966	E9PBK4;Q9H7Z3	.;CN102_HUMAN	M	966;735	ENSP00000346335:T966M;ENSP00000350579:T735M	ENSP00000346335:T966M	T	-	2	0	C14orf102	89824575	1.000000	0.71417	0.943000	0.38184	0.082000	0.17680	5.783000	0.68982	2.525000	0.85131	0.655000	0.94253	ACG		0.537	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		8	51	0	0	0	1	0	8	51				
PLEC	5339	broad.mit.edu	37	8	145006673	145006673	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145006673G>A	ENST00000322810.4	-	16	2452	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	PLEC_ENST00000356346.3_Silent_p.A610A|PLEC_ENST00000354958.2_Silent_p.A602A|PLEC_ENST00000398774.2_Silent_p.A592A|PLEC_ENST00000436759.2_Silent_p.A651A|PLEC_ENST00000354589.3_Silent_p.A624A|PLEC_ENST00000345136.3_Silent_p.A624A|PLEC_ENST00000357649.2_Silent_p.A628A|PLEC_ENST00000527096.1_Silent_p.A647A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	761	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						CCTTAGTGGCGGCTGCCACAA	0.622																																						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.(2281-2283)gcC>gcT		plectin							41.0	53.0	49.0					8																	145006673		1983	4124	6107	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145006673G>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.2283C>T	8.37:g.145006673G>A						PLEC_ENST00000354589.3_Silent_p.A624A|PLEC_ENST00000357649.2_Silent_p.A628A|PLEC_ENST00000398774.2_Silent_p.A592A|PLEC_ENST00000436759.2_Silent_p.A651A|PLEC_ENST00000354958.2_Silent_p.A602A|PLEC_ENST00000345136.3_Silent_p.A624A|PLEC_ENST00000356346.3_Silent_p.A610A|PLEC_ENST00000527096.1_Silent_p.A647A	p.A761A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			16	2452	-			761			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.2283C>T	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		17	70	0	0	0	1	0	17	70				
MAGEB2	4113	broad.mit.edu	37	X	30237395	30237395	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:30237395A>G	ENST00000378988.4	+	2	799	c.698A>G	c.(697-699)tAt>tGt	p.Y233C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	233	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGGAGTCTATGATGGAGAG	0.483																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(697-699)tAt>tGt		melanoma antigen family B, 2							71.0	64.0	66.0					X																	30237395		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237395A>G	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.698A>G	X.37:g.30237395A>G	ENSP00000368273:p.Tyr233Cys						p.Y233C	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	799	+			233			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.698A>G	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634006	0.47049	.	.	ENSG00000099399	ENST00000378988	T	0.05199	3.48	3.27	0.665	0.17896	.	0.382609	0.24321	N	0.039550	T	0.15089	0.0364	M	0.82132	2.575	0.09310	N	1	P	0.50819	0.939	P	0.55345	0.774	T	0.04723	-1.0931	10	0.59425	D	0.04	.	5.3934	0.16257	0.5283:0.0:0.0:0.4717	.	233	O15479	MAGB2_HUMAN	C	233	ENSP00000368273:Y233C	ENSP00000368273:Y233C	Y	+	2	0	MAGEB2	30147316	0.147000	0.22687	0.046000	0.18839	0.404000	0.30871	0.244000	0.18124	0.037000	0.15575	0.356000	0.21956	TAT		0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		3	9	0	0	0	1	0	3	9				
AFF3	3899	broad.mit.edu	37	2	100170918	100170918	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:100170918G>A	ENST00000409236.2	-	22	3526	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N	AFF3_ENST00000356421.2_Silent_p.N1163N|AFF3_ENST00000317233.4_Silent_p.N1138N|AFF3_ENST00000409579.1_Silent_p.N1163N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1138					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						GGGCGCTGGCGTTGGAGAGGC	0.637																																						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.(3412-3414)aaC>aaT		AF4/FMR2 family, member 3							65.0	60.0	62.0					2																	100170918		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170918G>A	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.3414C>T	2.37:g.100170918G>A						AFF3_ENST00000356421.2_Silent_p.N1163N|AFF3_ENST00000409579.1_Silent_p.N1163N|AFF3_ENST00000409236.1_Silent_p.N1138N	p.N1138N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			23	3649	-			1138					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.3414C>T	CCDS42723.1																																																																																				0.637	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		7	50	0	0	0	1	0	7	50				
OR8U1	219417	broad.mit.edu	37	11	56143702	56143702	+	Silent	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56143702C>A	ENST00000302270.1	+	1	603	c.603C>A	c.(601-603)gcC>gcA	p.A201A		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	201						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)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GGATCTTTGCCTGTGCTGGTA	0.458																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(601-603)gcC>gcA		olfactory receptor, family 8, subfamily U, member 1							208.0	206.0	206.0					11																	56143702		2067	4226	6293	SO:0001819	synonymous_variant	219417							g.chr11:56143702C>A	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.603C>A	11.37:g.56143702C>A							p.A201A	NM_001005204.1	NP_001005204.1					1	603	+	Esophageal squamous(21;0.00448)								Silent	SNP	ENST00000302270.1	37	c.603C>A	CCDS41647.1																																																																																				0.458	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		13	74	1	0	7.93312e-07	1	8.06626e-07	13	74				
RAI1	10743	broad.mit.edu	37	17	17699169	17699169	+	Silent	SNP	C	C	T	rs141757356	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:17699169C>T	ENST00000353383.1	+	3	3376	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	RAI1_ENST00000261641.6_Silent_p.D969D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	969					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)		CCACCTCGGACGCCTCTCTGG	0.622													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		15878	0.0		0.001	False		,,,				2504	0.0					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.(2905-2907)gaC>gaT		retinoic acid induced 1		C		65,4341	58.7+/-95.3	0,65,2138	36.0	37.0	37.0		2907	-8.6	0.0	17	dbSNP_134	37	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	RAI1	NM_030665.3		0,69,6434	TT,TC,CC		0.0465,1.4753,0.5305		969/1907	17699169	69,12937	2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699169C>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.2907C>T	17.37:g.17699169C>T						RAI1_ENST00000261641.6_Silent_p.D969D	p.D969D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3376	+			969					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.2907C>T	CCDS11188.1																																																																																				0.622	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		9	35	0	0	0	1	0	9	35				
OBSCN	84033	broad.mit.edu	37	1	228487117	228487117	+	Intron	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:228487117C>T	ENST00000422127.1	+	43	11703				OBSCN_ENST00000570156.2_Silent_p.D4456D|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Silent_p.D1146D|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron	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)				TGAGACAAGACGGGGCTGTGT	0.567																																						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.(13366-13368)gaC>gaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							145.0	123.0	130.0					1																	228487117		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228487117C>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.11659+4373C>T	1.37:g.228487117C>T						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Silent_p.D1146D|OBSCN_ENST00000284548.11_Intron	p.D4456D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			50	13442	+		Prostate(94;0.0405)	3499			Ig-like 46.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.13368C>T	CCDS58065.1																																																																																				0.567	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		18	80	0	0	0	1	0	18	80				
CPNE6	9362	broad.mit.edu	37	14	24545427	24545427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24545427C>T	ENST00000397016.2	+	12	1305	c.994C>T	c.(994-996)Cga>Tga	p.R332*	CPNE6_ENST00000537691.1_Nonsense_Mutation_p.R387*|CPNE6_ENST00000216775.2_Nonsense_Mutation_p.R332*	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	332	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCAGTCCCCGACAGCCCAA	0.647																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(994-996)Cga>Tga		copine VI (neuronal)							57.0	55.0	55.0					14																	24545427		2203	4300	6503	SO:0001587	stop_gained	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24545427C>T	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.994C>T	14.37:g.24545427C>T	ENSP00000380211:p.Arg332*					CPNE6_ENST00000216775.2_Nonsense_Mutation_p.R332*|CPNE6_ENST00000537691.1_Nonsense_Mutation_p.R387*	p.R332*			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	12	1305	+			332			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Nonsense_Mutation	SNP	ENST00000397016.2	37	c.994C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	38	6.849732	0.97885	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	.	.	.	4.91	3.98	0.46160	.	0.000000	0.42172	D	0.000743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-28.2321	6.1396	0.20253	0.1864:0.7192:0.0:0.0944	.	.	.	.	X	387;332;332	.	ENSP00000216775:R332X	R	+	1	2	CPNE6	23615267	0.006000	0.16342	1.000000	0.80357	0.984000	0.73092	0.317000	0.19487	2.549000	0.85964	0.563000	0.77884	CGA		0.647	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			11	32	0	0	0	1	0	11	32				
PDZRN3	23024	broad.mit.edu	37	3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039					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)		TTCTTGGATCGTCATCCAGTT	0.433																																						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.(3115-3117)aCg>aTg		PDZ domain containing ring finger 3							236.0	246.0	243.0					3																	73432601		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432601G>A	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.3116C>T	3.37:g.73432601G>A	ENSP00000263666:p.Thr1039Met					PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M	p.T1039M	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	3230	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1039					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3116C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.21|15.21	2.765645|2.765645	0.49574|0.49574	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.68915	.|0.3053	M|M	0.80982|0.80982	2.52|2.52	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	.|0.97110	.|1.0;0.998;0.999;0.997	.|T	.|0.72246	.|-0.4349	.|10	.|0.87932	.|D	.|0	.|.	19.3333|19.3333	0.94303|0.94303	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|761;756;756;1039	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	X|M	355|1039;761;696;696;756	.|ENSP00000263666:T1039M;ENSP00000442026:T761M;ENSP00000418168:T696M;ENSP00000418484:T696M;ENSP00000418624:T756M	.|ENSP00000263666:T1039M	R|T	-|-	1|2	2|0	PDZRN3|PDZRN3	73515291|73515291	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.232000|0.232000	0.25224|0.25224	9.572000|9.572000	0.98179|0.98179	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		27	139	0	0	0	1	0	27	139				
SALL3	27164	broad.mit.edu	37	18	76755234	76755234	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:76755234C>T	ENST00000537592.2	+	2	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P	SALL3_ENST00000575389.2_Silent_p.P1009P|SALL3_ENST00000536229.3_Silent_p.P876P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1081					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)		CCCCGCTGCCCGCGGGCGTCC	0.711																																						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.(2626-2628)ccC>ccT		spalt-like transcription factor 3							20.0	21.0	21.0					18																	76755234		2192	4295	6487	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755234C>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.3243C>T	18.37:g.76755234C>T						SALL3_ENST00000575389.2_Silent_p.P1009P|SALL3_ENST00000537592.2_Silent_p.P1081P	p.P876P			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3337	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1081					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2628C>T	CCDS12013.1																																																																																				0.711	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	20	0	0	0	1	0	6	20				
DBH	1621	broad.mit.edu	37	9	136509362	136509362	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136509362C>T	ENST00000393056.2	+	5	956	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	315					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCAGAGGAAGCCGGCCTTGCC	0.602																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(943-945)gCc>gTc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						99.0	94.0	96.0					9																	136509362		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136509362C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.944C>T	9.37:g.136509362C>T	ENSP00000376776:p.Ala315Val						p.A315V	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	5	956	+			315					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.944C>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923262	0.52653	.	.	ENSG00000123454	ENST00000393056	T	0.28255	1.62	5.13	4.23	0.50019	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.107337	0.64402	D	0.000005	T	0.28732	0.0712	L	0.28504	0.86	0.58432	D	0.999993	P	0.38048	0.616	P	0.47827	0.558	T	0.04961	-1.0915	10	0.24483	T	0.36	-10.3077	8.3348	0.32208	0.0:0.7607:0.1562:0.0831	.	315	P09172	DOPO_HUMAN	V	315	ENSP00000376776:A315V	ENSP00000376776:A315V	A	+	2	0	DBH	135499183	0.955000	0.32602	0.799000	0.32177	0.125000	0.20455	2.130000	0.42064	1.140000	0.42260	0.561000	0.74099	GCC		0.602	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		10	83	0	0	0	1	0	10	83				
OSBPL6	114880	broad.mit.edu	37	2	179213981	179213981	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179213981C>T	ENST00000190611.4	+	12	1394	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	OSBPL6_ENST00000357080.4_Missense_Mutation_p.R309C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R309C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R340C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R365C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R340C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R344C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	340					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCACCAGTTCGCTTGCATTC	0.423																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1018-1020)Cgc>Tgc		oxysterol binding protein-like 6							253.0	241.0	245.0					2																	179213981		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179213981C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1018C>T	2.37:g.179213981C>T	ENSP00000190611:p.Arg340Cys					OSBPL6_ENST00000392505.2_Missense_Mutation_p.R365C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R344C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R309C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R340C|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R309C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R340C	p.R340C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		12	1394	+			340					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1018C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602535	0.87157	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.32515	2.39;2.41;1.45;2.24;2.56;2.41;2.39	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	L	0.60455	1.87	0.80722	D	1	P;D;D;D;D;D	0.89917	0.873;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.479;0.999;0.988;0.999;0.993;0.997	T	0.52510	-0.8566	10	0.62326	D	0.03	-12.135	15.6747	0.77307	0.1376:0.8624:0.0:0.0	.	309;344;340;365;340;309	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	C	365;340;125;309;309;340;340;344	ENSP00000376293:R365C;ENSP00000352713:R340C;ENSP00000349591:R309C;ENSP00000387248:R309C;ENSP00000190611:R340C;ENSP00000386885:R340C;ENSP00000318723:R344C	ENSP00000190611:R340C	R	+	1	0	OSBPL6	178922227	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.572000	0.67411	2.595000	0.87683	0.655000	0.94253	CGC		0.423	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		32	146	0	0	0	1	0	32	146				
EPHA4	2043	broad.mit.edu	37	2	222347370	222347370	+	Silent	SNP	G	G	A	rs147516232		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:222347370G>A	ENST00000281821.2	-	5	1061	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	EPHA4_ENST00000409854.1_Silent_p.N340N|EPHA4_ENST00000392071.4_Silent_p.N289N|EPHA4_ENST00000409938.1_Silent_p.N340N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	340	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGATGTCTCGTTGACATTTG	0.463													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18944	0.0		0.0	False		,,,				2504	0.0					ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1018-1020)aaC>aaT		EPH receptor A4		A		12,4394	17.9+/-39.9	0,12,2191	101.0	112.0	109.0		1020	-8.0	0.4	2	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	EPHA4	NM_004438.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		340/987	222347370	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222347370G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1020C>T	2.37:g.222347370G>A						EPHA4_ENST00000392071.4_Silent_p.N289N|EPHA4_ENST00000409854.1_Silent_p.N340N|EPHA4_ENST00000409938.1_Silent_p.N340N	p.N340N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	5	1061	-		Renal(207;0.0183)	340			Fibronectin type-III 1.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.1020C>T	CCDS2447.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	8.265	0.812079	0.16537	0.002724	0.0	ENSG00000116106	ENST00000441679	.	.	.	5.91	-7.98	0.01135	.	.	.	.	.	T	0.65554	0.2702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71115	-0.4686	4	.	.	.	.	18.6739	0.91521	0.6721:0.0:0.3279:0.0	.	.	.	.	M	77	.	.	T	-	2	0	EPHA4	222055614	0.006000	0.16342	0.440000	0.26846	0.976000	0.68499	-0.915000	0.04033	-1.685000	0.01441	-0.735000	0.03563	ACG		0.463	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			8	66	0	0	0	1	0	8	66				
RAPGEF1	2889	broad.mit.edu	37	9	134518638	134518638	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:134518638C>T	ENST00000372189.3	-	4	554	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R162Q|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.R161Q	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	144					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCTGAATTCGAGGATCGTT	0.507																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(481-483)cGa>cAa		Rap guanine nucleotide exchange factor (GEF) 1							47.0	46.0	46.0					9																	134518638		2000	4181	6181	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134518638C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.431G>A	9.37:g.134518638C>T	ENSP00000361263:p.Arg144Gln					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R144Q|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R162Q|RAPGEF1_ENST00000481260.1_5'UTR	p.R161Q			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	4	725	-		Myeloproliferative disorder(178;0.204)	144					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.482G>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433160	0.62844	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.72	5.72	0.89469	.	0.149026	0.30949	N	0.008544	T	0.57829	0.2080	M	0.62723	1.935	0.41195	D	0.986339	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.961;0.961;0.983	T	0.46176	-0.9210	10	0.25751	T	0.34	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	161;144;162	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	Q	144;161;38;144;162;124;70;161;123;162	ENSP00000361269:R161Q;ENSP00000361263:R144Q;ENSP00000361264:R162Q;ENSP00000410640:R123Q;ENSP00000402174:R162Q	ENSP00000266110:R144Q	R	-	2	0	RAPGEF1	133508459	0.884000	0.30299	0.333000	0.25482	0.992000	0.81027	3.709000	0.54853	2.857000	0.98124	0.650000	0.86243	CGA		0.507	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		3	17	0	0	0	1	0	3	17				
LRRK1	79705	broad.mit.edu	37	15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T	rs202112893	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:101528929C>T	ENST00000388948.3	+	5	883	c.524C>T	c.(523-525)aCg>aTg	p.T175M	LRRK1_ENST00000284395.5_Missense_Mutation_p.T172M|LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.T148M(2)|p.T175M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632													C|||	5	0.000998403	0.0	0.0014	5008	,	,		18218	0.001		0.0	False		,,,				2504	0.0031					ENST00000284395.5																			3	Substitution - Missense(3)	p.T148M(2)|p.T175M(1)	large_intestine(2)|central_nervous_system(1)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(514-516)aCg>aTg		leucine-rich repeat kinase 1		C	MET/THR	3,4077		0,3,2037	61.0	66.0	65.0		524	4.6	0.8	15		65	0,8350		0,0,4175	yes	missense	LRRK1	NM_024652.3	81	0,3,6212	TT,TC,CC		0.0,0.0735,0.0241	possibly-damaging	175/2016	101528929	3,12427	2040	4175	6215	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528929C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.524C>T	15.37:g.101528929C>T	ENSP00000373600:p.Thr175Met					LRRK1_ENST00000388948.3_Missense_Mutation_p.T175M|LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M	p.T172M			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	915	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		175						Missense_Mutation	SNP	ENST00000388948.3	37	c.515C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783124	0.49891	7.35E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.65732	-0.17;0.61;-0.17	5.5	4.56	0.56223	Ankyrin repeat-containing domain (4);	0.227982	0.34853	N	0.003634	T	0.66458	0.2791	L	0.31578	0.945	0.25143	N	0.990487	D;D	0.89917	0.995;1.0	P;D	0.63703	0.778;0.917	T	0.61008	-0.7149	10	0.48119	T	0.1	.	13.8269	0.63357	0.0:0.7077:0.2923:0.0	.	175;175	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	M	175;172;175	ENSP00000373600:T175M;ENSP00000284395:T172M;ENSP00000433268:T175M	ENSP00000284395:T172M	T	+	2	0	LRRK1	99346452	0.962000	0.33011	0.848000	0.33437	0.409000	0.31022	2.165000	0.42396	1.288000	0.44600	0.650000	0.86243	ACG		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		15	67	0	0	0	1	0	15	67				
TOP2A	7153	broad.mit.edu	37	17	38557133	38557133	+	Missense_Mutation	SNP	C	C	T	rs548652478		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38557133C>T	ENST00000423485.1	-	21	2791	c.2633G>A	c.(2632-2634)cGt>cAt	p.R878H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	878					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)	ATCCATCAAACGCCTGATGTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.001					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.(2632-2634)cGt>cAt		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)						246.0	237.0	240.0					17																	38557133		1904	4127	6031	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.chr17:38557133C>T		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.2633G>A	17.37:g.38557133C>T	ENSP00000411532:p.Arg878His						p.R878H	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		21	2791	-		Breast(137;0.00328)	878					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2633G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073207	0.76415	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25912	1.77	5.21	3.17	0.36434	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);	0.049633	0.85682	D	0.000000	T	0.37544	0.1007	M	0.78285	2.405	0.58432	D	0.999998	P	0.47545	0.897	P	0.46659	0.523	T	0.40346	-0.9568	10	0.52906	T	0.07	.	14.4209	0.67183	0.2699:0.7301:0.0:0.0	.	878	P11388	TOP2A_HUMAN	H	878;958;901;914	ENSP00000411532:R878H	ENSP00000269577:R958H	R	-	2	0	TOP2A	35810659	0.987000	0.35691	0.933000	0.37362	0.978000	0.69477	3.256000	0.51492	0.658000	0.30925	0.467000	0.42956	CGT		0.408	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			34	154	0	0	0	1	0	34	154				
EPPK1	83481	broad.mit.edu	37	8	144944144	144944144	+	Missense_Mutation	SNP	G	G	A	rs372633695		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144944144G>A	ENST00000525985.1	-	2	3349	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M				P58107	EPIPL_HUMAN	epiplakin 1	1093						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)			GGCATAGCTCGTGCGCCCCTG	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18724	0.0		0.0	False		,,,				2504	0.0					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.(3277-3279)aCg>aTg		epiplakin 1		G	MET/THR	1,4109		0,1,2054	26.0	28.0	27.0		3278	2.3	0.9	8		27	1,8403		0,1,4201	no	missense	EPPK1	NM_031308.1	81	0,2,6255	AA,AG,GG		0.0119,0.0243,0.016	probably-damaging	1093/2420	144944144	2,12512	2055	4202	6257	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944144G>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.3278C>T	8.37:g.144944144G>A	ENSP00000436337:p.Thr1093Met						p.T1093M			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	3349	-	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)		1093					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3278C>T		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924188	0.34002	2.43E-4	1.19E-4	ENSG00000227184	ENST00000525985	T	0.68479	-0.33	4.28	2.29	0.28610	.	.	.	.	.	T	0.48447	0.1500	L	0.29908	0.895	0.22719	N	0.998812	P	0.50443	0.935	B	0.39660	0.306	T	0.39583	-0.9607	9	0.49607	T	0.09	.	4.9121	0.13827	0.3624:0.0:0.6376:0.0	.	1093	E9PPU0	.	M	1093	ENSP00000436337:T1093M	ENSP00000436337:T1093M	T	-	2	0	EPPK1	145016132	0.900000	0.30661	0.866000	0.34008	0.040000	0.13550	2.318000	0.43779	1.006000	0.39211	0.313000	0.20887	ACG		0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	21	0	0	0	1	0	6	21				
ABR	29	broad.mit.edu	37	17	915194	915194	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:915194G>A	ENST00000302538.5	-	19	2139	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	ABR_ENST00000291107.2_Missense_Mutation_p.R628W|ABR_ENST00000572441.1_Missense_Mutation_p.R116W|ABR_ENST00000543210.2_Missense_Mutation_p.R116W|ABR_ENST00000536794.2_Missense_Mutation_p.R447W|ABR_ENST00000544583.2_Missense_Mutation_p.R619W|ABR_ENST00000574437.1_Missense_Mutation_p.R619W	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	665	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACACACTGCCGGACGATGTAG	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1855-1857)Cgg>Tgg		active BCR-related							186.0	142.0	157.0					17																	915194		2203	4300	6503	SO:0001583	missense	29				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915194G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1993C>T	17.37:g.915194G>A	ENSP00000303909:p.Arg665Trp					ABR_ENST00000543210.2_Missense_Mutation_p.R116W|ABR_ENST00000572441.1_Missense_Mutation_p.R116W|ABR_ENST00000536794.2_Missense_Mutation_p.R447W|ABR_ENST00000574437.1_Missense_Mutation_p.R619W|ABR_ENST00000302538.5_Missense_Mutation_p.R665W|ABR_ENST00000291107.2_Missense_Mutation_p.R628W	p.R619W	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2454	-			665					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1855C>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101497	0.94245	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	5.97	5.97	0.96955	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.262584	0.38058	N	0.001825	T	0.50411	0.1614	M	0.78285	2.405	0.44539	D	0.997495	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.999	D;P;P;D;D	0.72625	0.978;0.825;0.859;0.968;0.968	T	0.47459	-0.9116	10	0.66056	D	0.02	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	447;116;628;575;665	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	W	665;619;628;447;116	ENSP00000303909:R665W;ENSP00000442048:R619W;ENSP00000291107:R628W;ENSP00000437429:R447W;ENSP00000445198:R116W	ENSP00000291107:R628W	R	-	1	2	ABR	861944	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.737000	0.68606	2.851000	0.98039	0.644000	0.83932	CGG		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			12	87	0	0	0	1	0	12	87				
LRRC8D	55144	broad.mit.edu	37	1	90400389	90400389	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:90400389C>T	ENST00000337338.5	+	3	2169	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R588W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	588					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCGAGAGTTGCGGCACCTTAA	0.398																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1762-1764)Cgg>Tgg		leucine rich repeat containing 8 family, member D							83.0	80.0	81.0					1																	90400389		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400389C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1762C>T	1.37:g.90400389C>T	ENSP00000338887:p.Arg588Trp					LRRC8D_ENST00000394593.3_Missense_Mutation_p.R588W	p.R588W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2169	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	588					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1762C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610253	0.46527	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.25749	1.78;1.78	6.07	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.39898	1.24	0.58432	D	0.999995	D	0.71674	0.998	D	0.63793	0.918	T	0.02437	-1.1159	9	.	.	.	.	13.1861	0.59682	0.3277:0.6723:0.0:0.0	.	588	Q7L1W4	LRC8D_HUMAN	W	588	ENSP00000338887:R588W;ENSP00000378093:R588W	.	R	+	1	2	LRRC8D	90172977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.975000	0.49281	1.500000	0.48636	0.655000	0.94253	CGG		0.398	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		5	41	0	0	0	1	0	5	41				
DNAH17	8632	broad.mit.edu	37	17	76510888	76510888	+	Missense_Mutation	SNP	G	G	A	rs200427893		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76510888G>A	ENST00000585328.1	-	26	4196	c.4072C>T	c.(4072-4074)Cgc>Tgc	p.R1358C	DNAH17_ENST00000389840.5_Missense_Mutation_p.R1357C	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1357	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(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)			TGCCAGTGGCGTTCCCGAATG	0.652																																						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.(4069-4071)Cgc>Tgc		dynein, axonemal, heavy chain 17		G	CYS/ARG	0,4208		0,0,2104	65.0	69.0	67.0		4081	5.3	1.0	17		67	2,8454		0,2,4226	no	missense	DNAH17	NM_173628.3	180	0,2,6330	AA,AG,GG		0.0237,0.0,0.0158		1361/4463	76510888	2,12662	2104	4228	6332	SO:0001583	missense	8632							g.chr17:76510888G>A	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.4072C>T	17.37:g.76510888G>A	ENSP00000465516:p.Arg1358Cys					DNAH17_ENST00000585328.1_Missense_Mutation_p.R1358C	p.R1357C					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4193	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4069C>T		.	.	.	.	.	.	.	.	.	.	G	18.93	3.728084	0.69074	0.0	2.37E-4	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.67523	-0.27	5.31	5.31	0.75309	.	.	.	.	.	D	0.88596	0.6479	H	0.98936	4.375	0.49582	D	0.999809	.	.	.	.	.	.	D	0.92183	0.5753	7	0.87932	D	0	.	12.6672	0.56848	0.0:0.0:0.7111:0.2889	.	.	.	.	C	1358;1357	ENSP00000374490:R1357C	ENSP00000300671:R1358C	R	-	1	0	DNAH17	74022483	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	2.596000	0.46205	2.476000	0.83614	0.563000	0.77884	CGC		0.652	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	37	0	0	0	1	0	11	37				
SYBU	55638	broad.mit.edu	37	8	110587185	110587185	+	Missense_Mutation	SNP	C	C	T	rs566837139		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:110587185C>T	ENST00000422135.1	-	8	2457	c.1942G>A	c.(1942-1944)Gtg>Atg	p.V648M	SYBU_ENST00000408908.2_Missense_Mutation_p.V648M|SYBU_ENST00000446070.2_Missense_Mutation_p.V647M|SYBU_ENST00000399066.3_Missense_Mutation_p.V645M|SYBU_ENST00000528331.1_Missense_Mutation_p.V529M|SYBU_ENST00000533895.1_Missense_Mutation_p.V647M|SYBU_ENST00000433638.1_Missense_Mutation_p.V648M|SYBU_ENST00000532779.1_Missense_Mutation_p.V580M|SYBU_ENST00000408889.3_Missense_Mutation_p.V529M|SYBU_ENST00000440310.1_Missense_Mutation_p.V648M|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533171.1_Missense_Mutation_p.V648M|SYBU_ENST00000419099.1_Missense_Mutation_p.V647M|SYBU_ENST00000533065.1_Missense_Mutation_p.V529M|SYBU_ENST00000276646.9_Missense_Mutation_p.V648M|SYBU_ENST00000528647.1_Missense_Mutation_p.V647M|SYBU_ENST00000529690.1_Missense_Mutation_p.V518M|SYBU_ENST00000529175.1_Missense_Mutation_p.V442M|SYBU_ENST00000424158.2_Missense_Mutation_p.V653M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	648					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V645M(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGGGCAACCACGCAACAGCCC	0.577																																						ENST00000399066.3																			1	Substitution - Missense(1)	p.V645M(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1933-1935)Gtg>Atg		syntabulin (syntaxin-interacting)							84.0	94.0	91.0					8																	110587185		2077	4191	6268	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587185C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1942G>A	8.37:g.110587185C>T	ENSP00000407118:p.Val648Met					SYBU_ENST00000424158.2_Missense_Mutation_p.V653M|SYBU_ENST00000533065.1_Missense_Mutation_p.V529M|SYBU_ENST00000533171.1_Missense_Mutation_p.V648M|SYBU_ENST00000446070.2_Missense_Mutation_p.V647M|SYBU_ENST00000440310.1_Missense_Mutation_p.V648M|SYBU_ENST00000408889.3_Missense_Mutation_p.V529M|SYBU_ENST00000532779.1_Missense_Mutation_p.V580M|SYBU_ENST00000408908.2_Missense_Mutation_p.V648M|SYBU_ENST00000433638.1_Missense_Mutation_p.V648M|SYBU_ENST00000528331.1_Missense_Mutation_p.V529M|SYBU_ENST00000422135.1_Missense_Mutation_p.V648M|SYBU_ENST00000419099.1_Missense_Mutation_p.V647M|SYBU_ENST00000276646.9_Missense_Mutation_p.V648M|SYBU_ENST00000528647.1_Missense_Mutation_p.V647M|SYBU_ENST00000533895.1_Missense_Mutation_p.V647M|SYBU_ENST00000529690.1_Missense_Mutation_p.V518M|SYBU_ENST00000529175.1_Missense_Mutation_p.V442M	p.V645M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	2660	-			648					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1933G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530474	0.45073	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.7	2.77	0.32553	.	0.413949	0.27000	N	0.021430	T	0.48750	0.1517	M	0.61703	1.905	0.35004	D	0.756232	D;P;D;D;D	0.63880	0.993;0.668;0.978;0.993;0.993	P;B;P;P;P	0.52424	0.698;0.055;0.525;0.62;0.62	T	0.59632	-0.7418	9	0.66056	D	0.02	-13.6518	2.8563	0.05573	0.3429:0.3463:0.2261:0.0847	.	518;580;647;648;645	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	M	647;653;580;645;647;529;442;648;647;648;647;648;648;648;529;529;518;648	.	ENSP00000276646:V648M	V	-	1	0	SYBU	110656361	0.424000	0.25490	0.984000	0.44739	0.887000	0.51463	0.414000	0.21164	0.712000	0.32039	0.655000	0.94253	GTG		0.577	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		21	82	0	0	0	1	0	21	82				
CDC25A	993	broad.mit.edu	37	3	48200920	48200920	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:48200920G>A	ENST00000302506.3	-	14	1756	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	450	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|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)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTACCCAGGCGATCTCTCTCT	0.512																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1348-1350)Cgc>Tgc		cell division cycle 25A							106.0	90.0	96.0					3																	48200920		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200920G>A	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1348C>T	3.37:g.48200920G>A	ENSP00000303706:p.Arg450Cys					CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	p.R450C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1756	-			450			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1348C>T	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344385	0.82022	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.25749	1.78;1.78	5.76	4.86	0.63082	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78298	-0.2258	10	0.87932	D	0	.	13.531	0.61621	0.0:0.0:0.8379:0.1621	.	410;450	P30304-2;P30304	.;MPIP1_HUMAN	C	450;410	ENSP00000303706:R450C;ENSP00000343166:R410C	ENSP00000303706:R450C	R	-	1	0	CDC25A	48175924	1.000000	0.71417	0.930000	0.37139	0.702000	0.40608	3.997000	0.57016	1.369000	0.46134	0.655000	0.94253	CGC		0.512	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		11	57	0	0	0	1	0	11	57				
SPTBN1	6711	broad.mit.edu	37	2	54886368	54886368	+	Silent	SNP	G	G	A	rs150684675		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:54886368G>A	ENST00000356805.4	+	31	6602	c.6321G>A	c.(6319-6321)acG>acA	p.T2107T	AC093110.3_ENST00000456363.1_RNA|SPTBN1_ENST00000333896.5_Silent_p.T2094T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2107					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCGAGCACGAAGGTTTCAG	0.567																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6280-6282)acG>acA		spectrin, beta, non-erythrocytic 1		G	,	1,4405	2.1+/-5.4	0,1,2202	101.0	116.0	111.0		6321,6282	-1.4	1.0	2	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	2107/2365,2094/2156	54886368	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54886368G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6321G>A	2.37:g.54886368G>A						SPTBN1_ENST00000356805.4_Silent_p.T2107T	p.T2094T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		30	6667	+			2107					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.6282G>A	CCDS33198.1																																																																																				0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			27	154	0	0	0	1	0	27	154				
AADACL4	343066	broad.mit.edu	37	1	12704657	12704657	+	Missense_Mutation	SNP	C	C	T	rs201202045	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:12704657C>T	ENST00000376221.1	+	1	92	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	31						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTCCTCACCACGGATATCCCT	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		21458	0.0		0.0	False		,,,				2504	0.002					ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(91-93)aCg>aTg		arylacetamide deacetylase-like 4		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	217.0	189.0	198.0		92	-0.2	0.0	1		198	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	31/408	12704657	2,13004	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12704657C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.92C>T	1.37:g.12704657C>T	ENSP00000365395:p.Thr31Met						p.T31M	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	1	92	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	31						Missense_Mutation	SNP	ENST00000376221.1	37	c.92C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857624	0.17178	2.27E-4	1.16E-4	ENSG00000204518	ENST00000376221	T	0.04654	3.58	3.99	-0.172	0.13327	.	1.163430	0.06415	N	0.721340	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	P	0.35745	0.518	B	0.33121	0.158	T	0.45673	-0.9245	10	0.44086	T	0.13	0.0177	6.9872	0.24735	0.0:0.5975:0.0:0.4025	.	31	Q5VUY2	ADCL4_HUMAN	M	31	ENSP00000365395:T31M	ENSP00000365395:T31M	T	+	2	0	AADACL4	12627244	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.375000	0.20518	-0.122000	0.11766	0.561000	0.74099	ACG		0.527	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		19	107	0	0	0	1	0	19	107				
TMEM255B	348013	broad.mit.edu	37	13	114504726	114504726	+	Missense_Mutation	SNP	G	G	A	rs371183456		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:114504726G>A	ENST00000375353.3	+	7	637	c.610G>A	c.(610-612)Gtc>Atc	p.V204I		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	204						integral component of membrane (GO:0016021)											AGTTCTGAACGTCCTGGGCCT	0.672																																						ENST00000375353.3																			0											c.(610-612)Gtc>Atc		transmembrane protein 255B		G	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	42.0	34.0	36.0		610	-1.6	0.0	13		36	0,8600		0,0,4300	no	missense	FAM70B	NM_182614.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	204/327	114504726	1,13003	2202	4300	6502	SO:0001583	missense	348013							g.chr13:114504726G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.610G>A	13.37:g.114504726G>A	ENSP00000364502:p.Val204Ile						p.V204I	NM_182614.2	NP_872420.1					7	637	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.610G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.454662	0.01071	2.27E-4	0.0	ENSG00000184497	ENST00000375353	T	0.41400	1.0	4.69	-1.57	0.08506	.	.	.	.	.	T	0.16599	0.0399	N	0.10733	0.035	0.35930	D	0.832464	B	0.21821	0.061	B	0.19148	0.024	T	0.43278	-0.9401	9	0.02654	T	1	-16.567	9.6742	0.40030	0.6528:0.0:0.3472:0.0	.	204	Q8WV15	FA70B_HUMAN	I	204	ENSP00000364502:V204I	ENSP00000364502:V204I	V	+	1	0	FAM70B	113609217	0.998000	0.40836	0.001000	0.08648	0.043000	0.13939	1.209000	0.32357	-0.220000	0.09988	-0.657000	0.03884	GTC		0.672	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		8	23	0	0	0	1	0	8	23				
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						ENST00000252037.4																			1	Substitution - Missense(1)	p.R103Q(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(307-309)cGg>cAg		FK506 binding protein 6, 36kDa							131.0	112.0	118.0					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln					FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	p.R103Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			4	377	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		9	34	0	0	0	1	0	9	34				
SYNE1	23345	broad.mit.edu	37	6	152674405	152674405	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152674405G>A	ENST00000367255.5	-	69	11847	c.11246C>T	c.(11245-11247)aCg>aTg	p.T3749M	SYNE1_ENST00000423061.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T3749M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3720M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3749					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCTCCAACGTCTTCAATTT	0.423										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11245-11247)aCg>aTg		spectrin repeat containing, nuclear envelope 1							225.0	202.0	210.0					6																	152674405		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674405G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11246C>T	6.37:g.152674405G>A	ENSP00000356224:p.Thr3749Met	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.T3749M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3720M	p.T3749M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11847	-		Ovarian(120;0.0955)	3749					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11246C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.251	-0.618485	0.03663	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56611	0.55;0.64;0.45;0.64;1.33	5.61	0.839	0.18907	.	0.837508	0.10492	N	0.668344	T	0.22513	0.0543	L	0.51422	1.61	0.31461	N	0.669509	B;B;B;B	0.17038	0.02;0.02;0.02;0.016	B;B;B;B	0.13407	0.003;0.003;0.003;0.009	T	0.06570	-1.0819	10	0.46703	T	0.11	.	4.888	0.13713	0.3633:0.0:0.4352:0.2015	.	3749;3749;3749;3734	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3749;3734;3749;3734;3720	ENSP00000356224:T3749M;ENSP00000396024:T3734M;ENSP00000265368:T3749M;ENSP00000390975:T3734M;ENSP00000341887:T3720M	ENSP00000265368:T3749M	T	-	2	0	SYNE1	152716098	0.845000	0.29573	0.003000	0.11579	0.051000	0.14879	1.242000	0.32755	-0.139000	0.11414	-0.150000	0.13652	ACG		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	137	0	0	0	1	0	27	137				
AQP4	361	broad.mit.edu	37	18	24442304	24442304	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:24442304T>C	ENST00000383168.4	-	2	417	c.289A>G	c.(289-291)Aac>Gac	p.N97D	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.N75D|AQP4_ENST00000583022.1_5'Flank|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.N75D	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	97					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ACTGCAGGGTTGATGTGGCCA	0.552																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(289-291)Aac>Gac		aquaporin 4							111.0	95.0	100.0					18																	24442304		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24442304T>C	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.289A>G	18.37:g.24442304T>C	ENSP00000372654:p.Asn97Asp					AQP4_ENST00000581374.1_Missense_Mutation_p.N75D|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.N75D	p.N97D	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			2	417	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		97					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.289A>G	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323167	0.81580	.	.	ENSG00000171885	ENST00000383168;ENST00000383170	D	0.98649	-5.05	5.57	5.57	0.84162	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97772	1.0227	10	0.87932	D	0	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	97	P55087	AQP4_HUMAN	D	97;104	ENSP00000372654:N97D	ENSP00000372654:N97D	N	-	1	0	AQP4	22696302	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.033000	0.88852	2.111000	0.64477	0.379000	0.24179	AAC		0.552	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		19	72	0	0	0	1	0	19	72				
PSRC1	84722	broad.mit.edu	37	1	109823608	109823608	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:109823608C>T	ENST00000438534.2	-	5	923	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369903.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409138.2_Missense_Mutation_p.R262H|PSRC1_ENST00000369907.3_Missense_Mutation_p.R232H|PSRC1_ENST00000369909.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409267.1_Missense_Mutation_p.R232H	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	262	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCGGGGCAGGCGTTGAGAGTT	0.637																																						ENST00000438534.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(784-786)cGc>cAc		proline/serine-rich coiled-coil 1							40.0	44.0	43.0					1																	109823608		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109823608C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.785G>A	1.37:g.109823608C>T	ENSP00000413591:p.Arg262His					PSRC1_ENST00000369909.2_Missense_Mutation_p.R232H|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369907.3_Missense_Mutation_p.R232H|PSRC1_ENST00000369903.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409138.2_Missense_Mutation_p.R262H|PSRC1_ENST00000409267.1_Missense_Mutation_p.R232H	p.R262H	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	923	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	262			Pro/Ser-rich.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.785G>A		.	.	.	.	.	.	.	.	.	.	C	19.30	3.801204	0.70567	.	.	ENSG00000134222	ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903	T;T;T;T;T	0.53206	0.66;0.66;0.63;0.66;0.66	6.17	4.3	0.51218	.	0.229124	0.38326	N	0.001727	T	0.16128	0.0388	L	0.32530	0.975	0.28123	N	0.930528	B;B;B	0.24651	0.108;0.061;0.045	B;B;B	0.16722	0.016;0.016;0.011	T	0.07121	-1.0789	9	.	.	.	2.7031	10.0245	0.42063	0.0:0.8414:0.0:0.1586	.	262;232;232	Q6PGN9;Q6PGN9-2;A8K0M8	PSRC1_HUMAN;.;.	H	232;232;262;232;232	ENSP00000386323:R232H;ENSP00000358923:R232H;ENSP00000413591:R262H;ENSP00000358925:R232H;ENSP00000358919:R232H	.	R	-	2	0	PSRC1	109625131	0.996000	0.38824	0.987000	0.45799	0.653000	0.38743	2.343000	0.44001	1.630000	0.50440	0.655000	0.94253	CGC		0.637	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		17	48	0	0	0	1	0	17	48				
TNFRSF1A	7132	broad.mit.edu	37	12	6438670	6438670	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6438670G>A	ENST00000162749.2	-	10	1475	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.N349N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	392	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCAGCGCCCGTTCTGCAGCT	0.701																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1174-1176)aaC>aaT		tumor necrosis factor receptor superfamily, member 1A							13.0	14.0	14.0					12																	6438670		2197	4296	6493	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438670G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1176C>T	12.37:g.6438670G>A						TNFRSF1A_ENST00000540022.1_Silent_p.N349N	p.N392N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1475	-			392			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.1176C>T	CCDS8542.1																																																																																				0.701	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		5	16	0	0	0	1	0	5	16				
KRT80	144501	broad.mit.edu	37	12	52574746	52574746	+	Splice_Site	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52574746A>G	ENST00000394815.2	-	3	608	c.511T>C	c.(511-513)Tat>Cat	p.Y171H	KRT80_ENST00000313234.5_Splice_Site_p.Y171H	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	171	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCATCCTCATACCTGGGAGGG	0.602																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.e3-1		keratin 80							46.0	41.0	43.0					12																	52574746		2203	4300	6503	SO:0001630	splice_region_variant	144501					keratin filament	structural molecule activity	g.chr12:52574746A>G	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.510-1T>C	12.37:g.52574746A>G						KRT80_ENST00000394815.2_Splice_Site_p.Y171_splice	p.Y171_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	3	608	-			171			Coil 1B.|Rod.		Q6P1A5|Q7Z3Q0	Splice_Site	SNP	ENST00000394815.2	37	c.509_splice	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347863	0.61183	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.93659	-3.26;-3.26	3.76	3.76	0.43208	Filament (1);	0.000000	0.30285	N	0.009964	D	0.97216	0.9090	M	0.93283	3.4	0.40121	D	0.9766	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98221	1.0478	10	0.87932	D	0	.	12.695	0.56999	1.0:0.0:0.0:0.0	.	171;171;108	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	H	171	ENSP00000369361:Y171H;ENSP00000378292:Y171H	ENSP00000369361:Y171H	Y	-	1	0	KRT80	50861013	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	8.651000	0.91078	1.942000	0.56320	0.379000	0.24179	TAT		0.602	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507	Missense_Mutation	9	33	0	0	0	1	0	9	33				
NR2C2AP	126382	broad.mit.edu	37	19	19312306	19312306	+	3'UTR	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19312306G>T	ENST00000331552.7	-	0	1211				RFXANK_ENST00000303088.4_Intron|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.P161T|RFXANK_ENST00000353145.1_Intron|RFXANK_ENST00000392324.4_Intron|RFXANK_ENST00000456252.3_Intron|RFXANK_ENST00000407360.3_Intron	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein						cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AGGTTCCTGGGGTGAGTCCTC	0.458																																						ENST00000420605.2																			0				breast(1)|cervix(1)|kidney(2)|ovary(1)	5						c.(481-483)Ccc>Acc		nuclear receptor 2C2-associated protein																																				SO:0001624	3_prime_UTR_variant	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19312306G>T	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.*428C>A	19.37:g.19312306G>T						RFXANK_ENST00000392324.4_Intron|RFXANK_ENST00000456252.3_Intron|RFXANK_ENST00000303088.4_Intron|NR2C2AP_ENST00000331552.6_3'UTR|RFXANK_ENST00000407360.3_Intron|RFXANK_ENST00000353145.1_Intron|NR2C2AP_ENST00000590907.2_Silent_p.T42T	p.P161T			Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		6	777	-			0					A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	c.481C>A	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255980	0.10185	.	.	ENSG00000184162	ENST00000420605	.	.	.	2.01	-3.77	0.04346	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41662	-0.9496	5	0.87932	D	0	.	3.2026	0.06655	0.3581:0.0:0.4302:0.2117	.	.	.	.	T	161	.	ENSP00000402756:P161T	P	-	1	0	NR2C2AP	19173306	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.518000	0.06267	-0.952000	0.03649	-0.291000	0.09656	CCC		0.458	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		5	10	1	0	0.184627	1	0.185137	5	10				
ANK3	288	broad.mit.edu	37	10	61819478	61819478	+	Intron	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:61819478G>A	ENST00000280772.2	-	41	12787				ANK3_ENST00000355288.2_Silent_p.S815S|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Silent_p.S1675S|ANK3_ENST00000503366.1_Silent_p.S1682S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTCCAACTGGCTCTCATCTA	0.458																																						ENST00000373827.2																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5023-5025)agC>agT		ankyrin 3, node of Ranvier (ankyrin G)							156.0	151.0	153.0					10																	61819478		2203	4300	6503	SO:0001627	intron_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61819478G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12596-290C>T	10.37:g.61819478G>A						ANK3_ENST00000355288.2_Silent_p.S815S|ANK3_ENST00000503366.1_Silent_p.S1682S|ANK3_ENST00000280772.1_Intron|RP11-388P9.2_ENST00000414383.1_RNA	p.S1675S	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN			40	5195	-			3753			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5025C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351999	0.41700	.	.	ENSG00000151150	ENST00000514197;ENST00000511043	.	.	.	5.51	4.55	0.56014	.	.	.	.	.	T	0.70850	0.3271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	4	.	.	.	.	15.1101	0.72349	0.0:0.0:0.8579:0.1421	.	.	.	.	V	197;181	.	.	A	-	2	0	ANK3	61489484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.007000	0.63984	2.595000	0.87683	0.561000	0.74099	GCC		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	101	0	0	0	1	0	11	101				
SNAPC4	6621	broad.mit.edu	37	9	139289316	139289316	+	Silent	SNP	G	G	A	rs557393505		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139289316G>A	ENST00000298532.2	-	5	854	c.486C>T	c.(484-486)aaC>aaT	p.N162N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGTGTCCTCGTTGGCAGGTG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19480	0.0		0.001	False		,,,				2504	0.0					ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(484-486)aaC>aaT		small nuclear RNA activating complex, polypeptide 4, 190kDa							110.0	93.0	99.0					9																	139289316		2203	4300	6503	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139289316G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.486C>T	9.37:g.139289316G>A							p.N162N	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	5	854	-		Myeloproliferative disorder(178;0.0511)	162						Silent	SNP	ENST00000298532.2	37	c.486C>T	CCDS6998.1																																																																																				0.632	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		4	36	0	0	0	1	0	4	36				
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs569926953|rs147652902	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493																																						ENST00000329434.2																			1	Substitution - Missense(1)	p.E107K(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(319-321)Gaa>Aaa		olfactory receptor, family 5, subfamily P, member 2		C	LYS/GLU	2,4206		0,2,2102	97.0	113.0	108.0		319	5.5	0.8	11	dbSNP_134	108	0,8584		0,0,4292	no	missense	OR5P2	NM_153444.1	56	0,2,6394	TT,TC,CC		0.0,0.0475,0.0156	probably-damaging	107/323	7818171	2,12790	2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818171C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319G>A	11.37:g.7818171C>T	ENSP00000331823:p.Glu107Lys					RP11-35J10.5_ENST00000527565.1_lincRNA	p.E107K	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	349	-			107					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.319G>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724582	0.48833	4.75E-4	0.0	ENSG00000183303	ENST00000329434	T	0.00414	7.52	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.087192	0.49916	D	0.000131	T	0.01835	0.0058	M	0.92219	3.285	0.36026	D	0.8391	D	0.76494	0.999	D	0.73380	0.98	T	0.33085	-0.9882	10	0.87932	D	0	-34.5014	16.9428	0.86222	0.0:1.0:0.0:0.0	.	107	Q8WZ92	OR5P2_HUMAN	K	107	ENSP00000331823:E107K	ENSP00000331823:E107K	E	-	1	0	OR5P2	7774747	0.025000	0.19082	0.822000	0.32727	0.009000	0.06853	1.607000	0.36836	2.868000	0.98415	0.555000	0.69702	GAA		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		8	87	0	0	0	1	0	8	87				
MKL1	57591	broad.mit.edu	37	22	40815315	40815315	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:40815315C>T	ENST00000355630.3	-	12	1717	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	MKL1_ENST00000402042.1_Missense_Mutation_p.R326H|MKL1_ENST00000407029.1_Missense_Mutation_p.R376H|MKL1_ENST00000396617.3_Missense_Mutation_p.R376H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTCGAAGGCGCTCAATCAG	0.607			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1126-1128)cGc>cAc		megakaryoblastic leukemia (translocation) 1							44.0	46.0	45.0					22																	40815315		2202	4300	6502	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.chr22:40815315C>T	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.1127G>A	22.37:g.40815315C>T	ENSP00000347847:p.Arg376His					MKL1_ENST00000355630.3_Missense_Mutation_p.R376H|MKL1_ENST00000402042.1_Missense_Mutation_p.R326H|MKL1_ENST00000407029.1_Missense_Mutation_p.R376H	p.R376H			Q969V6	MKL1_HUMAN			12	1717	-			376			SAP.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1127G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191724	0.94923	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.88896	-2.29;-2.44;-2.28;-2.29	5.03	5.03	0.67393	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.96753	0.8940	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;P;P	0.91635	0.999;0.836;0.756	D	0.98100	1.0414	10	0.87932	D	0	-26.8399	18.5611	0.91100	0.0:1.0:0.0:0.0	.	326;376;376	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	376;376;326;376	ENSP00000347847:R376H;ENSP00000379861:R376H;ENSP00000385584:R326H;ENSP00000385835:R376H	ENSP00000347847:R376H	R	-	2	0	MKL1	39145261	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.651000	0.83577	2.613000	0.88420	0.655000	0.94253	CGC		0.607	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	32	0	0	0	1	0	4	32				
JAK1	3716	broad.mit.edu	37	1	65303716	65303716	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65303716A>G	ENST00000342505.4	-	22	3287	c.3039T>C	c.(3037-3039)agT>agC	p.S1013S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1013	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTTGGTGTTCACTCTCAACAA	0.458			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3037-3039)agT>agC		Janus kinase 1							89.0	80.0	83.0					1																	65303716		1895	4114	6009	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303716A>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3039T>C	1.37:g.65303716A>G							p.S1013S	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3287	-			1013			Protein kinase 2.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.3039T>C	CCDS41346.1																																																																																				0.458	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	25	0	0	0	1	0	4	25				
PTK2B	2185	broad.mit.edu	37	8	27310662	27310662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:27310662G>A	ENST00000397501.1	+	33	3388	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	PTK2B_ENST00000346049.5_Silent_p.P860P|PTK2B_ENST00000420218.2_Silent_p.P818P|PTK2B_ENST00000544172.1_Silent_p.P860P|PTK2B_ENST00000517339.1_Silent_p.P818P|PTK2B_ENST00000338238.4_Silent_p.P818P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	860	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				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)	AGAAGCCCCCGAGGCTGGGCG	0.522																																						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.(2578-2580)ccG>ccA		protein tyrosine kinase 2 beta							61.0	66.0	64.0					8																	27310662		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.chr8:27310662G>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.2580G>A	8.37:g.27310662G>A						PTK2B_ENST00000544172.1_Silent_p.P860P|PTK2B_ENST00000420218.2_Silent_p.P818P|PTK2B_ENST00000346049.5_Silent_p.P860P|PTK2B_ENST00000338238.4_Silent_p.P818P|PTK2B_ENST00000517339.1_Silent_p.P818P	p.P860P	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)	33	3388	+		Ovarian(32;2.72e-05)	860			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2580G>A	CCDS6057.1																																																																																				0.522	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		8	49	0	0	0	1	0	8	49				
DNAH5	1767	broad.mit.edu	37	5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:13839629C>T	ENST00000265104.4	-	35	5822	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1906	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)					TCTTGATATGCATATGACACT	0.353									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.(5716-5718)atG>atA		dynein, axonemal, heavy chain 5							71.0	68.0	69.0					5																	13839629		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.chr5:13839629C>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.5718G>A	5.37:g.13839629C>T	ENSP00000265104:p.Met1906Ile						p.M1906I	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			35	5822	-	Lung NSC(4;0.00476)		1906			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5718G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481256	0.44147	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	4.93	4.93	0.64822	.	0.104213	0.64402	D	0.000006	T	0.26412	0.0645	M	0.64676	1.99	0.53688	D	0.999972	B	0.12013	0.005	B	0.19946	0.027	T	0.03761	-1.1006	10	0.35671	T	0.21	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	1906	Q8TE73	DYH5_HUMAN	I	1906	ENSP00000265104:M1906I	ENSP00000265104:M1906I	M	-	3	0	DNAH5	13892629	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	4.037000	0.57311	2.300000	0.77407	0.650000	0.86243	ATG		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	33	0	0	0	1	0	7	33				
KDM3B	51780	broad.mit.edu	37	5	137727927	137727927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:137727927G>A	ENST00000314358.5	+	8	2806	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.R525Q|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	869					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCCAAGGGCCGGCCTCGGACT	0.607																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2605-2607)cGg>cAg		lysine (K)-specific demethylase 3B							27.0	33.0	31.0					5																	137727927		2187	4289	6476	SO:0001583	missense	51780				chromatin modification|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	g.chr5:137727927G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2606G>A	5.37:g.137727927G>A	ENSP00000326563:p.Arg869Gln					KDM3B_ENST00000394866.1_Missense_Mutation_p.R525Q|KDM3B_ENST00000542866.1_Intron	p.R869Q	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2806	+			869					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.2606G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898674	0.72639	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.73681	-0.23;-0.77	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.989;0.999	P;P	0.58970	0.738;0.849	T	0.72754	-0.4198	10	0.11794	T	0.64	-16.2759	20.4062	0.99009	0.0:0.0:1.0:0.0	.	525;869	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	869;659;525	ENSP00000326563:R869Q;ENSP00000378335:R525Q	ENSP00000326563:R869Q	R	+	2	0	KDM3B	137755826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.831000	0.97527	0.655000	0.94253	CGG		0.607	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		8	52	0	0	0	1	0	8	52				
MAP3K9	4293	broad.mit.edu	37	14	71216681	71216681	+	Silent	SNP	C	C	T	rs138594750		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:71216681C>T	ENST00000554752.2	-	4	1118	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	MAP3K9_ENST00000381250.4_Silent_p.T373T|MAP3K9_ENST00000555993.2_Silent_p.T373T|MAP3K9_ENST00000553414.1_Silent_p.T67T|MAP3K9_ENST00000554146.1_Silent_p.T110T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTCTGGGCACGTAGAAGGAA	0.517																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1117-1119)acG>acA		mitogen-activated protein kinase kinase kinase 9		T		5,4401	825.8+/-416.5	0,5,2198	157.0	135.0	143.0		1119	-11.8	0.0	14	dbSNP_134	143	15,8585	818.6+/-406.8	0,15,4285	no	coding-synonymous	MAP3K9	NM_033141.2		0,20,6483	TT,TC,CC		0.1744,0.1135,0.1538		373/1119	71216681	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71216681C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1119G>A	14.37:g.71216681C>T						MAP3K9_ENST00000554146.1_Silent_p.T110T|MAP3K9_ENST00000555993.2_Silent_p.T373T|MAP3K9_ENST00000553414.1_Silent_p.T67T|MAP3K9_ENST00000381250.4_Silent_p.T373T	p.T373T			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	4	1118	-			373			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.1119G>A																																																																																					0.517	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			11	50	0	0	0	1	0	11	50				
PTK2	5747	broad.mit.edu	37	8	141727771	141727771	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:141727771G>A	ENST00000522684.1	-	23	2297	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PTK2_ENST00000538769.1_Missense_Mutation_p.R358C|PTK2_ENST00000519465.1_Missense_Mutation_p.R318C|PTK2_ENST00000517887.1_Missense_Mutation_p.R734C|PTK2_ENST00000395218.2_Missense_Mutation_p.R690C|PTK2_ENST00000340930.3_Missense_Mutation_p.R690C|PTK2_ENST00000519419.1_Missense_Mutation_p.R734C|PTK2_ENST00000535192.1_Missense_Mutation_p.R690C|PTK2_ENST00000430260.2_5'UTR|PTK2_ENST00000521059.1_Missense_Mutation_p.R690C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	690					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTCATGCGCTCTTCTTGC	0.552																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2068-2070)Cgc>Tgc		protein tyrosine kinase 2							170.0	141.0	151.0					8																	141727771		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141727771G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2068C>T	8.37:g.141727771G>A	ENSP00000429911:p.Arg690Cys					PTK2_ENST00000395218.2_Missense_Mutation_p.R690C|PTK2_ENST00000519419.1_Missense_Mutation_p.R734C|PTK2_ENST00000538769.1_Missense_Mutation_p.R358C|PTK2_ENST00000340930.3_Missense_Mutation_p.R690C|PTK2_ENST00000430260.2_5'UTR|PTK2_ENST00000519465.1_Missense_Mutation_p.R318C|PTK2_ENST00000535192.1_Missense_Mutation_p.R690C|PTK2_ENST00000517887.1_Missense_Mutation_p.R734C|PTK2_ENST00000521059.1_Missense_Mutation_p.R690C	p.R690C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		23	2297	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	690					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2068C>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.769286|4.769286	0.90020|0.90020	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986	.|T;T;T;T;T;T;T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76962|0.76962	0.4061|0.4061	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;P;D;D;D;D;D	.|0.76071	.|0.964;0.987;0.917;0.945;0.893;0.925;0.917;0.962;0.917;0.943	T|T	0.77078|0.77078	-0.2721|-0.2721	5|10	.|0.59425	.|D	.|0.04	.|.	19.6639|19.6639	0.95886|0.95886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|690;385;610;690;712;690;642;538;358;318	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.|.;.;.;FAK1_HUMAN;.;.;.;.;.;.	V|C	700|690;690;318;734;690;642;690;611;385;362;690;358;734;388	.|ENSP00000429911:R690C;ENSP00000438009:R690C;ENSP00000429170:R318C;ENSP00000429082:R734C;ENSP00000429474:R690C;ENSP00000378644:R690C;ENSP00000428492:R362C;ENSP00000341189:R690C;ENSP00000445742:R358C;ENSP00000429129:R734C;ENSP00000430603:R388C	.|ENSP00000341189:R690C	A|R	-|-	2|1	0|0	PTK2|PTK2	141796953|141796953	1.000000|1.000000	0.71417|0.71417	0.885000|0.885000	0.34714|0.34714	0.982000|0.982000	0.71751|0.71751	4.551000|4.551000	0.60740|0.60740	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.552	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		21	93	0	0	0	1	0	21	93				
LDLR	3949	broad.mit.edu	37	19	11224018	11224018	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:11224018C>T	ENST00000558518.1	+	9	1438	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LDLR_ENST00000558013.1_Silent_p.S417S|LDLR_ENST00000545707.1_Silent_p.S290S|LDLR_ENST00000535915.1_Silent_p.S376S|LDLR_ENST00000455727.2_Silent_p.S249S|LDLR_ENST00000557933.1_Silent_p.S417S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	417					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TGGACCGGAGCGAGTACACCA	0.612																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1249-1251)agC>agT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						73.0	62.0	66.0					19																	11224018		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224018C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1251C>T	19.37:g.11224018C>T						LDLR_ENST00000535915.1_Silent_p.S376S|LDLR_ENST00000455727.2_Silent_p.S249S|LDLR_ENST00000558013.1_Silent_p.S417S|LDLR_ENST00000545707.1_Silent_p.S290S|LDLR_ENST00000557933.1_Silent_p.S417S	p.S417S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	9	1438	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	417					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1251C>T	CCDS12254.1																																																																																				0.612	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			7	36	0	0	0	1	0	7	36				
KLF5	688	broad.mit.edu	37	13	73636372	73636372	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:73636372T>C	ENST00000377687.4	+	2	1171	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLF5_ENST00000539231.1_Missense_Mutation_p.L121P|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	212					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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 positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AAACAAGAACTTCCTACACCA	0.512																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(634-636)cTt>cCt		Kruppel-like factor 5 (intestinal)							88.0	88.0	88.0					13																	73636372		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636372T>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.635T>C	13.37:g.73636372T>C	ENSP00000366915:p.Leu212Pro					KLF5_ENST00000539231.1_Missense_Mutation_p.L121P|KLF5_ENST00000477333.1_3'UTR	p.L212P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1171	+		Prostate(6;0.00187)|Breast(118;0.0735)	212					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.635T>C	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222332	0.39300	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08896	3.24;3.04	5.94	4.76	0.60689	.	0.224162	0.47093	D	0.000249	T	0.10637	0.0260	L	0.54323	1.7	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.02781	-1.1111	10	0.72032	D	0.01	.	11.8804	0.52571	0.0:0.068:0.0:0.932	.	212	Q13887	KLF5_HUMAN	P	121;212;192	ENSP00000440407:L121P;ENSP00000366915:L212P	ENSP00000366915:L212P	L	+	2	0	KLF5	72534373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.069000	0.40788	0.459000	0.35465	CTT		0.512	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			8	43	0	0	0	1	0	8	43				
TDO2	6999	broad.mit.edu	37	4	156825203	156825203	+	Silent	SNP	C	C	T	rs200196655	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:156825203C>T	ENST00000536354.2	+	2	133	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TAGAAGGCAGCGAAGAAGACA	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		17235	0.002		0.0	False		,,,				2504	0.0				Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(67-69)agC>agT		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						88.0	88.0	88.0					4																	156825203		2203	4300	6503	SO:0001819	synonymous_variant	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156825203C>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.69C>T	4.37:g.156825203C>T							p.S23S	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	2	133	+	all_hematologic(180;0.24)	Renal(120;0.0854)	23						Silent	SNP	ENST00000536354.2	37	c.69C>T	CCDS34086.1																																																																																				0.393	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		4	30	0	0	0	1	0	4	30				
FOXB2	442425	broad.mit.edu	37	9	79634892	79634892	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79634892C>T	ENST00000376708.1	+	1	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	108					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)|lung(8)|ovary(1)	10						GCGTCGCAAGCGCTTCAAGGT	0.692																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(322-324)Cgc>Tgc		forkhead box B2							25.0	29.0	28.0					9																	79634892		2202	4300	6502	SO:0001583	missense	442425				brain development|embryo 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|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.chr9:79634892C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.322C>T	9.37:g.79634892C>T	ENSP00000365898:p.Arg108Cys						p.R108C	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	322	+			108						Missense_Mutation	SNP	ENST00000376708.1	37	c.322C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409822	0.62399	.	.	ENSG00000204612	ENST00000376708	D	0.96104	-3.91	4.29	4.29	0.51040	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98611	1.0663	10	0.87932	D	0	.	11.937	0.52878	0.1739:0.8261:0.0:0.0	.	108	Q5VYV0	FOXB2_HUMAN	C	108	ENSP00000365898:R108C	ENSP00000365898:R108C	R	+	1	0	FOXB2	78824712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.871000	0.48459	1.923000	0.55706	0.462000	0.41574	CGC		0.692	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		11	44	0	0	0	1	0	11	44				
TTBK1	84630	broad.mit.edu	37	6	43221327	43221327	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43221327C>T	ENST00000259750.4	+	5	435	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GGCCGACCTGCGCCGTAGCCA	0.627																																						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.(352-354)Cgc>Tgc		tau tubulin kinase 1							38.0	33.0	35.0					6																	43221327		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43221327C>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.352C>T	6.37:g.43221327C>T	ENSP00000259750:p.Arg118Cys					TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	p.R118C	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)		5	435	+			118			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.352C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905097	0.72868	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.64991	-0.13	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259849	0.35555	N	0.003124	T	0.80783	0.4689	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85458	0.1165	10	0.66056	D	0.02	.	12.4026	0.55422	0.1691:0.8309:0.0:0.0	.	118	Q5TCY1	TTBK1_HUMAN	C	67;118;67	ENSP00000259750:R118C	ENSP00000259750:R118C	R	+	1	0	TTBK1	43329305	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.327000	0.43858	2.205000	0.71048	0.462000	0.41574	CGC		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			10	30	0	0	0	1	0	10	30				
PGLYRP2	114770	broad.mit.edu	37	19	15580623	15580623	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15580623G>A	ENST00000340880.4	-	4	1941	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	PGLYRP2_ENST00000292609.4_Silent_p.T487T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	487					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCGCCGCGGTGTAGTTGC	0.731																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1459-1461)acC>acT		peptidoglycan recognition protein 2							6.0	8.0	8.0					19																	15580623		2144	4195	6339	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580623G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1461C>T	19.37:g.15580623G>A						PGLYRP2_ENST00000340880.4_Silent_p.T487T	p.T487T			Q96PD5	PGRP2_HUMAN			4	1590	-			487					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.1461C>T	CCDS12330.2																																																																																				0.731	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		3	5	0	0	0	1	0	3	5				
PRPF3	9129	broad.mit.edu	37	1	150297487	150297487	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:150297487G>A	ENST00000324862.6	+	2	252	c.87G>A	c.(85-87)acG>acA	p.T29T	PRPF3_ENST00000414970.2_Silent_p.T29T|PRPF3_ENST00000543398.1_De_novo_Start_InFrame	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	29	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGAGCCTACGGTGGTCACAG	0.478																																					Ovarian(168;1070 2670 5178 20729)	ENST00000543398.1																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21								pre-mRNA processing factor 3							149.0	137.0	141.0					1																	150297487		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150297487G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.87G>A	1.37:g.150297487G>A						PRPF3_ENST00000414970.2_Silent_p.T29T|PRPF3_ENST00000324862.6_Silent_p.T29T				O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	0	175	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)							B4DSY9|O43446|Q5VT54	Translation_Start_Site	SNP	ENST00000324862.6	37		CCDS951.1																																																																																				0.478	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		17	64	0	0	0	1	0	17	64				
TPP2	7174	broad.mit.edu	37	13	103297267	103297267	+	Silent	SNP	G	G	A	rs200582637		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103297267G>A	ENST00000376065.4	+	19	2337	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	TPP2_ENST00000376052.3_Silent_p.S767S	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	767					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.S767S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCATGCATCGGAAGGAATCA	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		19951	0.001		0.0	False		,,,				2504	0.0					ENST00000376052.3																			1	Substitution - coding silent(1)	p.S767S(1)	lung(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2299-2301)tcG>tcA		tripeptidyl peptidase II							100.0	97.0	98.0					13																	103297267		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103297267G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2301G>A	13.37:g.103297267G>A						TPP2_ENST00000376065.4_Silent_p.S767S	p.S767S			P29144	TPP2_HUMAN			19	2317	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		767					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2301G>A	CCDS9502.1																																																																																				0.353	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			5	34	0	0	0	1	0	5	34				
TBC1D14	57533	broad.mit.edu	37	4	6925365	6925365	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6925365G>A	ENST00000409757.4	+	2	373	c.249G>A	c.(247-249)gcG>gcA	p.A83A	TBC1D14_ENST00000448507.1_Silent_p.A83A	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	83					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)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGCAGCGCGGTCCACGTGA	0.652																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(247-249)gcG>gcA		TBC1 domain family, member 14							50.0	56.0	54.0					4																	6925365		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6925365G>A	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.249G>A	4.37:g.6925365G>A						TBC1D14_ENST00000448507.1_Silent_p.A83A	p.A83A	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	373	+			83					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.249G>A	CCDS3394.2																																																																																				0.652	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		19	79	0	0	0	1	0	19	79				
HTR6	3362	broad.mit.edu	37	1	20005830	20005830	+	Missense_Mutation	SNP	G	G	A	rs376637765		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20005830G>A	ENST00000289753.1	+	3	1759	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	431					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCCGAGCTGCGGCCGCATCCA	0.682																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1291-1293)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	G	GLN/ARG	0,3732		0,0,1866	9.0	10.0	9.0		1292	2.3	1.0	1		9	1,7487		0,1,3743	no	missense	HTR6	NM_000871.1	43	0,1,5609	AA,AG,GG		0.0134,0.0,0.0089	benign	431/441	20005830	1,11219	1866	3744	5610	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005830G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1292G>A	1.37:g.20005830G>A	ENSP00000289753:p.Arg431Gln						p.R431Q	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1759	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	431					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.1292G>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602182	0.13939	0.0	1.34E-4	ENSG00000158748	ENST00000289753	T	0.53857	0.6	5.39	2.34	0.29019	.	0.833410	0.09901	N	0.741119	T	0.26919	0.0659	N	0.04508	-0.205	0.20638	N	0.999876	B	0.20052	0.041	B	0.08055	0.003	T	0.19289	-1.0310	9	.	.	.	.	7.7979	0.29158	0.4067:0.0:0.5933:0.0	.	431	P50406	5HT6R_HUMAN	Q	431	ENSP00000289753:R431Q	.	R	+	2	0	HTR6	19878417	0.999000	0.42202	0.989000	0.46669	0.155000	0.21991	0.970000	0.29383	0.711000	0.32018	0.561000	0.74099	CGG		0.682	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		3	12	0	0	0	1	0	3	12				
CCDC92	80212	broad.mit.edu	37	12	124422261	124422261	+	Missense_Mutation	SNP	C	C	T	rs202226542		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422261C>T	ENST00000238156.3	-	5	694	c.340G>A	c.(340-342)Gcg>Acg	p.A114T	CCDC92_ENST00000545891.1_Missense_Mutation_p.A97T|CCDC92_ENST00000545135.1_Missense_Mutation_p.A97T|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	114						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGATCATCGCGTTTTTCTGC	0.468																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(289-291)Gcg>Acg		coiled-coil domain containing 92		C	THR/ALA	0,4406		0,0,2203	291.0	266.0	275.0		340	4.3	0.0	12		275	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC92	NM_025140.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	114/332	124422261	1,13005	2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422261C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.340G>A	12.37:g.124422261C>T	ENSP00000238156:p.Ala114Thr					CCDC92_ENST00000238156.3_Missense_Mutation_p.A114T|CCDC92_ENST00000545891.1_Missense_Mutation_p.A97T|CCDC92_ENST00000544798.1_Intron	p.A97T			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3585	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		114					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.289G>A	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363386	0.95877	0.0	1.16E-4	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761	T;T;T;T	0.50548	1.74;1.76;1.76;0.74	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	M	0.84219	2.685	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.69702	-0.5074	10	0.30078	T	0.28	-20.5176	13.9509	0.64116	0.0:0.9266:0.0:0.0734	.	114	Q53HC0	CCD92_HUMAN	T	114;97;97;114	ENSP00000238156:A114T;ENSP00000439526:A97T;ENSP00000440024:A97T;ENSP00000439441:A114T	ENSP00000238156:A114T	A	-	1	0	CCDC92	122988214	1.000000	0.71417	0.011000	0.14972	0.001000	0.01503	7.776000	0.85560	1.310000	0.45006	0.555000	0.69702	GCG		0.468	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		22	145	0	0	0	1	0	22	145				
POLL	27343	broad.mit.edu	37	10	103343363	103343363	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:103343363G>A	ENST00000370162.3	-	6	1461	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	POLL_ENST00000370169.1_Missense_Mutation_p.R323W|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.R235W|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R48W|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000299206.4_Missense_Mutation_p.R323W|POLL_ENST00000339310.3_Missense_Mutation_p.R46W|POLL_ENST00000456836.2_Missense_Mutation_p.R60W|POLL_ENST00000370168.3_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	323					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTTCCGCAAATGCCCG	0.562								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(967-969)Cgg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							110.0	91.0	98.0					10																	103343363		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343363G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.967C>T	10.37:g.103343363G>A	ENSP00000359181:p.Arg323Trp					DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.R60W|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R48W|POLL_ENST00000370169.1_Missense_Mutation_p.R323W|POLL_ENST00000370172.1_Missense_Mutation_p.R235W|POLL_ENST00000299206.4_Missense_Mutation_p.R323W|POLL_ENST00000339310.3_Missense_Mutation_p.R46W	p.R323W	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1461	-		Colorectal(252;0.234)	323					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.967C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317264	0.60524	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502;ENST00000426919	T;T;T;T;T;T;T;T;T;T	0.77489	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;-1.1	5.83	3.9	0.45041	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.90198	3.095	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	0.85130	0.922;0.956;0.955;0.997;0.93	D	0.91303	0.5068	10	0.87932	D	0	-12.2606	14.9184	0.70815	0.0:0.0:0.7387:0.2613	.	46;60;48;323;231	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860	.;.;.;DPOLL_HUMAN;.	W	323;323;323;46;235;323;48;323;60;231;46;334	ENSP00000299206:R323W;ENSP00000359188:R323W;ENSP00000343102:R46W;ENSP00000359191:R235W;ENSP00000359181:R323W;ENSP00000359177:R48W;ENSP00000390810:R60W;ENSP00000400676:R231W;ENSP00000406791:R46W;ENSP00000411678:R334W	ENSP00000299206:R323W	R	-	1	2	POLL	103333353	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.979000	0.49313	0.729000	0.32403	0.563000	0.77884	CGG		0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		15	50	0	0	0	1	0	15	50				
UPF1	5976	broad.mit.edu	37	19	18976421	18976421	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:18976421G>A	ENST00000599848.1	+	22	3313	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	UPF1_ENST00000262803.5_Missense_Mutation_p.R1024H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1035					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGAAGAACCGCTTTGGGCTT	0.652																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3070-3072)cGc>cAc		UPF1 regulator of nonsense transcripts homolog (yeast)							82.0	87.0	86.0					19																	18976421		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976421G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3104G>A	19.37:g.18976421G>A	ENSP00000470142:p.Arg1035His					UPF1_ENST00000599848.1_Missense_Mutation_p.R1035H	p.R1024H	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			22	3343	+			1035					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3071G>A		.	.	.	.	.	.	.	.	.	.	g	21.4	4.140987	0.77775	.	.	ENSG00000005007	ENST00000262803	D	0.89681	-2.55	4.78	4.78	0.61160	.	0.181315	0.47455	D	0.000223	T	0.81692	0.4876	L	0.34521	1.04	0.58432	D	0.999995	P;P	0.48640	0.913;0.715	B;B	0.35470	0.128;0.203	T	0.83041	-0.0157	10	0.37606	T	0.19	-36.6408	16.3868	0.83507	0.0:0.0:1.0:0.0	.	1035;1024	Q92900;Q92900-2	RENT1_HUMAN;.	H	1024	ENSP00000262803:R1024H	ENSP00000262803:R1024H	R	+	2	0	UPF1	18837421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.329000	0.72920	2.213000	0.71641	0.479000	0.44913	CGC		0.652	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		24	143	0	0	0	1	0	24	143				
ZNF419	79744	broad.mit.edu	37	19	58005261	58005261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:58005261C>T	ENST00000221735.7	+	5	1522	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ZNF419_ENST00000424930.2_Nonsense_Mutation_p.R447*|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	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)	p.R421*(1)|p.R414*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CATGCAACATCGAAAAGTTCA	0.433																																						ENST00000424930.2																			2	Substitution - Nonsense(2)	p.R421*(1)|p.R414*(1)	large_intestine(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1339-1341)Cga>Tga		zinc finger protein 419							115.0	121.0	119.0					19																	58005261		2203	4300	6503	SO:0001587	stop_gained	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005261C>T	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1336C>T	19.37:g.58005261C>T	ENSP00000221735:p.Arg446*					ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Nonsense_Mutation_p.R446*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*	p.R447*	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1568	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	446					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Nonsense_Mutation	SNP	ENST00000221735.7	37	c.1339C>T	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048861	0.93740	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	.	.	.	2.11	-0.185	0.13276	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.3991	0.07316	0.2029:0.512:0.0:0.285	.	.	.	.	X	421;447;434;433;414;400;446	.	ENSP00000221735:R446X	R	+	1	2	ZNF419	62697073	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	-1.271000	0.02828	0.193000	0.20303	0.205000	0.17691	CGA		0.433	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		16	91	0	0	0	1	0	16	91				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							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)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	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.11058322C>T												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	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		13	103	0	0	0	1	0	13	103				
CCDC66	285331	broad.mit.edu	37	3	56658551	56658551	+	IGR	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:56658551T>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000493960.2_Missense_Mutation_p.N1480S|FAM208A_ENST00000355628.5_Missense_Mutation_p.N1419S|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000431842.2_Missense_Mutation_p.N1043S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTGTGGAAGGTTTTCTTCTGT	0.378																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(3127-3129)aAc>aGc		family with sequence similarity 208, member A							145.0	138.0	141.0					3																	56658551		2203	4300	6503	SO:0001628	intergenic_variant	23272							g.chr3:56658551T>C	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56658551T>C						FAM208A_ENST00000355628.5_Missense_Mutation_p.N1419S|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000493960.2_Missense_Mutation_p.N1480S	p.N1043S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			16	4052	-			1480					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.3128A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	0.521	-0.862147	0.02610	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12039	2.72;2.92;2.9	5.43	-0.0178	0.13967	.	0.595417	0.17524	N	0.171111	T	0.05731	0.0150	N	0.08118	0	0.20489	N	0.999894	B;B;B;B	0.12630	0.003;0.006;0.003;0.004	B;B;B;B	0.12156	0.004;0.004;0.007;0.004	T	0.36016	-0.9765	10	0.31617	T	0.26	0.0306	6.378	0.21519	0.0:0.1301:0.2705:0.5994	.	1480;1419;1043;1480	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	S	1043;1480;1419	ENSP00000399410:N1043S;ENSP00000417509:N1480S;ENSP00000347845:N1419S	ENSP00000347845:N1419S	N	-	2	0	C3orf63	56633591	1.000000	0.71417	0.435000	0.26784	0.219000	0.24729	0.838000	0.27572	-0.228000	0.09869	0.459000	0.35465	AAC		0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		10	67	0	0	0	1	0	10	67				
GKN2	200504	broad.mit.edu	37	2	69177376	69177376	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69177376G>A	ENST00000328895.4	-	3	194	c.86C>T	c.(85-87)cCa>cTa	p.P29L	GKN2_ENST00000481498.1_Missense_Mutation_p.P29L	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	29						extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ATTGTTGCTTGGGCTGATGAT	0.353																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(85-87)cCa>cTa		gastrokine 2							86.0	81.0	83.0					2																	69177376		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69177376G>A	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.86C>T	2.37:g.69177376G>A	ENSP00000329292:p.Pro29Leu					GKN2_ENST00000328895.4_Missense_Mutation_p.P29L	p.P29L			Q86XP6	GKN2_HUMAN			3	104	-			29					Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.86C>T	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044306	0.55110	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.47177	0.88;0.85	5.28	4.4	0.53042	.	0.253690	0.34676	N	0.003768	T	0.53045	0.1772	M	0.64997	1.995	0.39154	D	0.962287	B;D	0.59767	0.451;0.986	B;P	0.50970	0.112;0.655	T	0.58662	-0.7597	10	0.48119	T	0.1	-4.4389	11.1716	0.48575	0.0:0.0:0.8165:0.1835	.	29;29	E5RHQ8;Q86XP6	.;GKN2_HUMAN	L	29	ENSP00000329292:P29L;ENSP00000428538:P29L	ENSP00000329292:P29L	P	-	2	0	GKN2	69030880	0.962000	0.33011	0.685000	0.30070	0.696000	0.40369	2.255000	0.43222	1.439000	0.47511	0.655000	0.94253	CCA		0.353	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		7	22	0	0	0	1	0	7	22				
XIRP1	165904	broad.mit.edu	37	3	39229797	39229797	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:39229797G>A	ENST00000340369.3	-	2	1368	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.S380S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	380					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCACAGGGTGGAGCGGACAT	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1138-1140)tcC>tcT		xin actin-binding repeat containing 1							133.0	138.0	136.0					3																	39229797		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229797G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1140C>T	3.37:g.39229797G>A						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.S380S	p.S380S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1368	-			380					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1140C>T	CCDS2683.1																																																																																				0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		27	165	0	0	0	1	0	27	165				
TCEA3	6920	broad.mit.edu	37	1	23720487	23720487	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23720487C>T	ENST00000450454.2	-	8	810	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	235	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACGCGGTTCCGGTACTTCAT	0.627																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(703-705)cGg>cAg		transcription elongation factor A (SII), 3							74.0	76.0	75.0					1																	23720487		1970	4155	6125	SO:0001583	missense	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23720487C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.704G>A	1.37:g.23720487C>T	ENSP00000406293:p.Arg235Gln						p.R235Q	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	8	810	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	235			TFIIS central.		A8K2K7|Q5DR83	Missense_Mutation	SNP	ENST00000450454.2	37	c.704G>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636630	0.87760	.	.	ENSG00000204219	ENST00000450454	T	0.48201	0.82	5.46	5.46	0.80206	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.163504	0.52532	D	0.000074	T	0.57213	0.2038	M	0.81341	2.54	0.80722	D	1	P	0.39060	0.657	B	0.40285	0.325	T	0.64241	-0.6454	10	0.72032	D	0.01	-6.1932	18.3438	0.90314	0.0:1.0:0.0:0.0	.	235	O75764	TCEA3_HUMAN	Q	235	ENSP00000406293:R235Q	ENSP00000406293:R235Q	R	-	2	0	TCEA3	23593074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.586000	0.60984	2.765000	0.95021	0.650000	0.86243	CGG		0.627	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		6	42	0	0	0	1	0	6	42				
EXTL1	2134	broad.mit.edu	37	1	26359747	26359747	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:26359747A>G	ENST00000374280.3	+	8	2326	c.1459A>G	c.(1459-1461)Acc>Gcc	p.T487A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	487					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)		CCCATATAGCACCATCAGAAC	0.567																																						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.(1459-1461)Acc>Gcc		exostosin-like glycosyltransferase 1							89.0	79.0	82.0					1																	26359747		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26359747A>G	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.1459A>G	1.37:g.26359747A>G	ENSP00000363398:p.Thr487Ala						p.T487A	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)	8	2326	+		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)	487					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1459A>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.459445	0.01062	.	.	ENSG00000158008	ENST00000374280	T	0.74526	-0.85	5.06	-2.85	0.05734	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.512740	0.20680	N	0.087678	T	0.34629	0.0904	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44112	-0.9349	10	0.15952	T	0.53	-2.1323	10.7483	0.46194	0.5491:0.0:0.4509:0.0	.	487	Q92935	EXTL1_HUMAN	A	487	ENSP00000363398:T487A	ENSP00000363398:T487A	T	+	1	0	EXTL1	26232334	0.007000	0.16637	0.009000	0.14445	0.053000	0.15095	0.061000	0.14366	-0.447000	0.07138	-0.441000	0.05720	ACC		0.567	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		5	51	0	0	0	1	0	5	51				
VEGFA	7422	broad.mit.edu	37	6	43748503	43748503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43748503C>T	ENST00000523873.1	+	6	495	c.457C>T	c.(457-459)Cga>Tga	p.R153*	VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R333*|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R333*|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000425836.2_Nonsense_Mutation_p.R333*			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	153					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GGGGCAAAAACGAAAGCGCAA	0.532																																						ENST00000425836.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(997-999)Cga>Tga		vascular endothelial growth factor A	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						137.0	131.0	133.0					6																	43748503		2203	4300	6503	SO:0001587	stop_gained	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43748503C>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.457C>T	6.37:g.43748503C>T	ENSP00000430479:p.Arg153*					VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R153*	p.R333*			P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		6	997	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		153					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Nonsense_Mutation	SNP	ENST00000523873.1	37	c.997C>T	CCDS55010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.073907|6.073907	0.97256|0.97256	.|.	.|.	ENSG00000112715|ENSG00000112715	ENST00000413642;ENST00000372055;ENST00000425836;ENST00000520948;ENST00000523873;ENST00000518689|ENST00000519767	.|.	.|.	.|.	4.85|4.85	2.74|2.74	0.32292|0.32292	.|.	0.695181|.	0.13124|.	N|.	0.411967|.	.|T	.|0.49712	.|0.1573	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49579	.|-0.8925	.|4	0.02654|.	T|.	1|.	-6.6028|-6.6028	11.8268|11.8268	0.52271|0.52271	0.5285:0.4715:0.0:0.0|0.5285:0.4715:0.0:0.0	.|.	.|.	.|.	.|.	X|M	333;333;333;153;153;153|304	.|.	ENSP00000361125:R333X|.	R|T	+|+	1|2	2|0	VEGFA|VEGFA	43856481|43856481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.449000|2.449000	0.44935|0.44935	1.016000|1.016000	0.39470|0.39470	0.561000|0.561000	0.74099|0.74099	CGA|ACG		0.532	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		11	72	0	0	0	1	0	11	72				
PPP1R13L	10848	broad.mit.edu	37	19	45895240	45895240	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45895240C>A	ENST00000418234.2	-	8	1791	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E571D	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	571	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)		CCTCAGATCCCTCAGTGATGG	0.692																																					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.(1711-1713)gaG>gaT		protein phosphatase 1, regulatory subunit 13 like							30.0	37.0	34.0					19																	45895240		2197	4287	6484	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895240C>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.1713G>T	19.37:g.45895240C>A	ENSP00000403902:p.Glu571Asp					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E571D	p.E571D	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1791	-		all_neural(266;0.224)|Ovarian(192;0.231)	571			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1713G>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759449	0.31137	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58940	0.3;0.3	4.76	3.73	0.42828	Src homology-3 domain (1);	0.278658	0.30320	N	0.009884	T	0.32376	0.0827	N	0.08118	0	0.44927	D	0.997948	B;B	0.29862	0.259;0.107	B;B	0.25884	0.064;0.021	T	0.12451	-1.0547	10	0.33141	T	0.24	.	8.7496	0.34607	0.0:0.8974:0.0:0.1026	.	571;150	Q8WUF5;A7YME7	IASPP_HUMAN;.	D	571;571;145	ENSP00000403902:E571D;ENSP00000354218:E571D	ENSP00000221478:E145D	E	-	3	2	PPP1R13L	50587080	0.931000	0.31567	0.984000	0.44739	0.636000	0.38137	0.051000	0.14141	1.239000	0.43787	0.456000	0.33151	GAG		0.692	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		10	48	1	0	4.68919e-08	1	4.78798e-08	10	48				
TRPM8	79054	broad.mit.edu	37	2	234846109	234846109	+	Missense_Mutation	SNP	G	G	A	rs200565245		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234846109G>A	ENST00000324695.4	+	4	344	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRPM8_ENST00000355722.4_Missense_Mutation_p.A52T|TRPM8_ENST00000409625.1_Missense_Mutation_p.A25T|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	102					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)	TCCTACCGACGCCTTTGGGGA	0.478																																						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.(304-306)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						149.0	150.0	150.0					2																	234846109		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234846109G>A	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.304G>A	2.37:g.234846109G>A	ENSP00000323926:p.Ala102Thr					TRPM8_ENST00000409625.1_Missense_Mutation_p.A25T|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.A52T	p.A102T	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)	4	344	+		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)	102					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.304G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311473	0.81358	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.64618	-0.11;-0.11;-0.11	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.78155	0.4239	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.922;0.996	T	0.75903	-0.3153	10	0.39692	T	0.17	-32.0687	18.3402	0.90303	0.0:0.0:1.0:0.0	.	52;102	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	T	102;52;25	ENSP00000323926:A102T;ENSP00000347956:A52T;ENSP00000386771:A25T	ENSP00000323926:A102T	A	+	1	0	TRPM8	234510848	1.000000	0.71417	0.963000	0.40424	0.578000	0.36192	8.519000	0.90563	2.676000	0.91093	0.591000	0.81541	GCC		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		8	111	0	0	0	1	0	8	111				
COL27A1	85301	broad.mit.edu	37	9	116984538	116984538	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:116984538C>T	ENST00000356083.3	+	14	2848	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	819	Collagen-like 4.|Pro-rich.|Triple-helical region.				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						CTGGAGTCCCCGGCCTCATTG	0.637																																						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.(2455-2457)ccC>ccT		collagen, type XXVII, alpha 1							66.0	73.0	71.0					9																	116984538		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116984538C>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.2457C>T	9.37:g.116984538C>T							p.P819P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			14	2848	+			819			Collagen-like 4.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2457C>T	CCDS6802.1																																																																																				0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		25	74	0	0	0	1	0	25	74				
SYNJ2	8871	broad.mit.edu	37	6	158483059	158483059	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000367121.3_Silent_p.T330T|SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.T330T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(988-990)acG>acA		synaptojanin 2							167.0	176.0	173.0					6																	158483059		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483059G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.990G>A	6.37:g.158483059G>A						SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.T330T|SYNJ2_ENST00000367121.3_Silent_p.T330T	p.T330T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1065	+			330			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.990G>A	CCDS5254.1																																																																																				0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			27	169	0	0	0	1	0	27	169				
CUX1	1523	broad.mit.edu	37	7	101840561	101840561	+	Missense_Mutation	SNP	C	C	T	rs371099197		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101840561C>T	ENST00000292535.7	+	15	1908	c.1870C>T	c.(1870-1872)Cgt>Tgt	p.R624C	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.R624C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R522C|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R624C|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R635C|CUX1_ENST00000556210.1_Missense_Mutation_p.R522C|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	624					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						CCTGGCCCTCCGTAGCATCCA	0.572																																						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.(1903-1905)Cgt>Tgt		cut-like homeobox 1							63.0	58.0	60.0					7																	101840561		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.chr7:101840561C>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.1870C>T	7.37:g.101840561C>T	ENSP00000292535:p.Arg624Cys					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R624C|CUX1_ENST00000556210.1_Missense_Mutation_p.R522C|CUX1_ENST00000550008.2_Missense_Mutation_p.R624C|CUX1_ENST00000549414.2_Missense_Mutation_p.R624C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R522C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron	p.R635C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			15	1923	+			624					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1903C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565312	0.65651	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.70164	-0.34;-0.33;-0.46;-0.43;-0.28;-0.31	5.41	4.48	0.54585	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71474	-0.4582	10	0.38643	T	0.18	-17.5567	14.9217	0.70843	0.1437:0.8563:0.0:0.0	.	624;635	P39880;P39880-3	CUX1_HUMAN;.	C	635;624;624;624;522;522	ENSP00000353401:R635C;ENSP00000292535:R624C;ENSP00000446630:R624C;ENSP00000447373:R624C;ENSP00000450125:R522C;ENSP00000451558:R522C	ENSP00000292535:R624C	R	+	1	0	CUX1	101627281	1.000000	0.71417	0.946000	0.38457	0.982000	0.71751	3.747000	0.55134	2.527000	0.85204	0.561000	0.74099	CGT		0.572	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	51	0	0	0	1	0	10	51				
PCNXL2	80003	broad.mit.edu	37	1	233190173	233190173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:233190173G>A	ENST00000258229.9	-	25	4426	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q50*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1398						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGACTCCTGGAGGGTCCTT	0.438																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4192-4194)Cag>Tag		pecanex-like 2 (Drosophila)							55.0	54.0	55.0					1																	233190173		1862	4101	5963	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233190173G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4192C>T	1.37:g.233190173G>A	ENSP00000258229:p.Gln1398*					PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q50*	p.Q1398*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			25	4426	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1398					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.4192C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	49	15.194620	0.99825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5835	0.91180	0.0:0.0:1.0:0.0	.	.	.	.	X	50;1398	.	ENSP00000258229:Q1398X	Q	-	1	0	PCNXL2	231256796	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.420000	0.97426	2.474000	0.83562	0.655000	0.94253	CAG		0.438	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		5	30	0	0	0	1	0	5	30				
TAF1C	9013	broad.mit.edu	37	16	84215231	84215231	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84215231G>A	ENST00000567759.1	-	9	1255	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	TAF1C_ENST00000541676.1_Missense_Mutation_p.S265L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S358L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S26L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S332L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S265L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	358					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGGCTCCCGAGCGGCTGCA	0.657																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1072-1074)tCg>tTg		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							30.0	33.0	32.0					16																	84215231		2199	4300	6499	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215231G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1073C>T	16.37:g.84215231G>A	ENSP00000455265:p.Ser358Leu					TAF1C_ENST00000541676.1_Missense_Mutation_p.S265L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S265L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S26L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S358L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S332L	p.S358L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			9	1255	-			358					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1073C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091484	0.76756	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.67865	1.51;-0.29;-0.29	4.52	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);	0.305329	0.23981	N	0.042662	T	0.79505	0.4457	M	0.70595	2.14	0.20563	N	0.999882	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.995;0.996;0.995	T	0.70813	-0.4770	10	0.66056	D	0.02	-21.529	12.629	0.56646	0.0:0.0:1.0:0.0	.	332;332;358;265	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	358;265;265;332	ENSP00000367802:S358L;ENSP00000437900:S265L;ENSP00000345305:S265L	ENSP00000345305:S265L	S	-	2	0	TAF1C	82772732	0.981000	0.34729	0.337000	0.25536	0.917000	0.54804	4.120000	0.57897	2.340000	0.79590	0.561000	0.74099	TCG		0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		9	24	0	0	0	1	0	9	24				
SEMA3F	6405	broad.mit.edu	37	3	50224121	50224121	+	Missense_Mutation	SNP	C	C	T	rs200910175		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:50224121C>T	ENST00000002829.3	+	18	2373	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEMA3F_ENST00000434342.1_Missense_Mutation_p.S599L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S531L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	630	Ig-like C2-type.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGCCCCGCTCGCCCCAAGCC	0.622																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1888-1890)tCg>tTg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							38.0	36.0	37.0					3																	50224121		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50224121C>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1889C>T	3.37:g.50224121C>T	ENSP00000002829:p.Ser630Leu					SEMA3F_ENST00000434342.1_Missense_Mutation_p.S599L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S531L	p.S630L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	18	2373	+			630			Ig-like C2-type.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1889C>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	C	36	5.700441	0.96802	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.01854	4.6;4.6;4.6	5.89	5.89	0.94794	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109676	0.64402	D	0.000005	T	0.12347	0.0300	M	0.86343	2.81	0.58432	D	0.999999	D;D	0.62365	0.991;0.972	P;B	0.53035	0.716;0.436	T	0.00130	-1.2014	10	0.87932	D	0	.	19.8722	0.96854	0.0:1.0:0.0:0.0	.	599;630	C9JQ85;Q13275	.;SEM3F_HUMAN	L	531;630;599	ENSP00000388931:S531L;ENSP00000002829:S630L;ENSP00000409859:S599L	ENSP00000002829:S630L	S	+	2	0	SEMA3F	50199125	1.000000	0.71417	0.967000	0.41034	0.856000	0.48823	7.665000	0.83852	2.793000	0.96121	0.655000	0.94253	TCG		0.622	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		5	31	0	0	0	1	0	5	31				
CYP2S1	29785	broad.mit.edu	37	19	41700463	41700463	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41700463C>T	ENST00000310054.4	+	2	408	c.192C>T	c.(190-192)taC>taT	p.Y64Y	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	64					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTAAGAAGTACGGACCGGTGT	0.617																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(190-192)taC>taT		cytochrome P450, family 2, subfamily S, polypeptide 1							76.0	72.0	73.0					19																	41700463		2203	4300	6503	SO:0001819	synonymous_variant	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41700463C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.192C>T	19.37:g.41700463C>T						CYP2S1_ENST00000542619.1_5'UTR	p.Y64Y	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			2	408	+			64					Q9BZ66	Silent	SNP	ENST00000310054.4	37	c.192C>T	CCDS12573.1																																																																																				0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			7	44	0	0	0	1	0	7	44				
PRKCA	5578	broad.mit.edu	37	17	64637512	64637512	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:64637512G>A	ENST00000413366.3	+	4	354	c.328G>A	c.(328-330)Gga>Aga	p.G110R	RNA5SP445_ENST00000515889.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	110					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)	CCACACTTACGGAAGCCCCAC	0.438																																						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.(328-330)Gga>Aga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						223.0	184.0	197.0					17																	64637512		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.chr17:64637512G>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.328G>A	17.37:g.64637512G>A	ENSP00000408695:p.Gly110Arg						p.G110R	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		4	354	+			110					B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.328G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999364	0.54147	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.92249	-3.0	6.04	6.04	0.98038	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	N	0.12831	0.26	0.51767	D	0.99993	B	0.32604	0.377	B	0.25405	0.06	T	0.80200	-0.1481	10	0.08179	T	0.78	.	14.9703	0.71229	0.0:0.0:0.8572:0.1428	.	110	P17252	KPCA_HUMAN	R	110;17	ENSP00000408695:G110R	ENSP00000284384:G17R	G	+	1	0	PRKCA	62067974	1.000000	0.71417	0.758000	0.31321	0.938000	0.57974	5.368000	0.66133	2.873000	0.98535	0.561000	0.74099	GGA		0.438	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			18	105	0	0	0	1	0	18	105				
ZNF28	7576	broad.mit.edu	37	19	53303248	53303248	+	Missense_Mutation	SNP	C	C	T	rs139889621	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:53303248C>T	ENST00000457749.2	-	4	1969	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R564H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R564H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R564H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	617					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)		TGATGTCTGACGGAAGGTCTT	0.463													-|||	3	0.000599042	0.0	0.0	5008	,	,		24121	0.0		0.002	False		,,,				2504	0.001					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.(1690-1692)cGt>cAt		zinc finger protein 28		C	HIS/ARG	2,4404		0,2,2201	247.0	219.0	228.0		1850	-3.9	0.0	19	dbSNP_134	228	17,8583		0,17,4283	no	missense	ZNF28	NM_006969.3	29	0,19,6484	TT,TC,CC		0.1977,0.0454,0.1461	benign	617/719	53303248	19,12987	2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303248C>T	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.1850G>A	19.37:g.53303248C>T	ENSP00000397693:p.Arg617His					ZNF28_ENST00000360272.4_Missense_Mutation_p.R564H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R564H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R617H	p.R564H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2584	-			617					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1691G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	8.064	0.768849	0.15983	4.54E-4	0.001977	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	1.94	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	L	0.31120	0.905	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.10941	-1.0608	9	0.56958	D	0.05	.	2.7036	0.05156	0.1182:0.3518:0.3338:0.1962	.	617	P17035	ZNF28_HUMAN	H	564;617;564;564	ENSP00000412143:R564H;ENSP00000397693:R617H;ENSP00000353410:R564H;ENSP00000444965:R564H	ENSP00000353410:R564H	R	-	2	0	ZNF28	57995060	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.924000	0.00049	-2.486000	0.00520	-1.868000	0.00555	CGT		0.463	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		21	137	0	0	0	1	0	21	137				
DDN	23109	broad.mit.edu	37	12	49391305	49391305	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49391305C>T	ENST00000421952.2	-	2	1375	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	452	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATGACAAAGACGCCTTCCCCA	0.642																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1354-1356)Gtc>Atc		dendrin							62.0	62.0	62.0					12																	49391305		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391305C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1354G>A	12.37:g.49391305C>T	ENSP00000390590:p.Val452Ile						p.V452I	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1375	-			452			Interaction with CD2AP and NPHS1 (By similarity).			Missense_Mutation	SNP	ENST00000421952.2	37	c.1354G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	c	8.757	0.922593	0.18056	.	.	ENSG00000181418	ENST00000421952	T	0.50001	0.76	3.99	1.13	0.20643	.	0.369043	0.19837	N	0.104949	T	0.23410	0.0566	N	0.19112	0.55	0.23425	N	0.997703	B	0.22983	0.078	B	0.15052	0.012	T	0.11767	-1.0574	10	0.15499	T	0.54	-29.9197	3.6641	0.08249	0.0:0.4817:0.189:0.3293	.	452	O94850	DEND_HUMAN	I	452	ENSP00000390590:V452I	ENSP00000390590:V452I	V	-	1	0	DDN	47677572	0.750000	0.28316	0.979000	0.43373	0.616000	0.37450	0.130000	0.15850	0.255000	0.21593	0.486000	0.48141	GTC		0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			16	94	0	0	0	1	0	16	94				
IQCF2	389123	broad.mit.edu	37	3	51897158	51897158	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:51897158G>A	ENST00000333127.3	+	3	296	c.267G>A	c.(265-267)cgG>cgA	p.R89R	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	89										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGAAACGGCAGGCAGCTC	0.612																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(265-267)cgG>cgA		IQ motif containing F2							100.0	96.0	97.0					3																	51897158		2203	4300	6503	SO:0001819	synonymous_variant	389123							g.chr3:51897158G>A	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.267G>A	3.37:g.51897158G>A						IQCF2_ENST00000429548.1_3'UTR	p.R89R	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	296	+			89						Silent	SNP	ENST00000333127.3	37	c.267G>A	CCDS2835.1																																																																																				0.612	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		8	42	0	0	0	1	0	8	42				
EVC	2121	broad.mit.edu	37	4	5755633	5755633	+	Silent	SNP	G	G	A	rs112861104	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:5755633G>A	ENST00000264956.6	+	10	1621	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	EVC_ENST00000382674.2_Silent_p.P479P|EVC_ENST00000509451.1_Silent_p.P479P	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	479					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)				AGGCCCAGCCGACTGCTGACC	0.602																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1435-1437)ccG>ccA		Ellis van Creveld syndrome		G		1,4405	2.1+/-5.4	0,1,2202	69.0	66.0	67.0		1437	1.0	0.0	4	dbSNP_132	67	0,8600		0,0,4300	no	coding-synonymous	EVC	NM_153717.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		479/993	5755633	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5755633G>A	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.1437G>A	4.37:g.5755633G>A						EVC_ENST00000509451.1_Silent_p.P479P|EVC_ENST00000264956.6_Silent_p.P479P	p.P479P			P57679	EVC_HUMAN			10	1621	+		Myeloproliferative disorder(84;0.117)	479						Silent	SNP	ENST00000264956.6	37	c.1437G>A	CCDS3383.1																																																																																				0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			8	39	0	0	0	1	0	8	39				
SPSB4	92369	broad.mit.edu	37	3	140866040	140866040	+	Missense_Mutation	SNP	C	C	T	rs200129730		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:140866040C>T	ENST00000310546.2	+	3	1495	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCCTGGGCCGCCAGCGCCT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18021	0.001		0.0	False		,,,				2504	0.0					ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(751-753)Cgc>Tgc		splA/ryanodine receptor domain and SOCS box containing 4							51.0	51.0	51.0					3																	140866040		2203	4300	6503	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140866040C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.751C>T	3.37:g.140866040C>T	ENSP00000311609:p.Arg251Cys					SPSB4_ENST00000507895.1_3'UTR	p.R251C	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			3	1495	+			251			SOCS box.			Missense_Mutation	SNP	ENST00000310546.2	37	c.751C>T	CCDS3115.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.7	4.030160	0.75504	.	.	ENSG00000175093	ENST00000310546	T	0.48522	0.81	5.67	3.76	0.43208	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.81497	2.545	0.58432	D	0.99999	D	0.76494	0.999	D	0.64877	0.93	T	0.69548	-0.5116	10	0.56958	D	0.05	-25.8085	11.4084	0.49911	0.4461:0.5539:0.0:0.0	.	251	Q96A44	SPSB4_HUMAN	C	251	ENSP00000311609:R251C	ENSP00000311609:R251C	R	+	1	0	SPSB4	142348730	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.386000	0.34419	1.373000	0.46208	0.561000	0.74099	CGC		0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		7	29	0	0	0	1	0	7	29				
DIDO1	11083	broad.mit.edu	37	20	61513671	61513671	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61513671C>T	ENST00000266070.4	-	16	3962	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1213K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1213					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCGCTTTTCGTCCATCTTG	0.493																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3637-3639)Gaa>Aaa		death inducer-obliterator 1							105.0	111.0	109.0					20																	61513671		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513671C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3637G>A	20.37:g.61513671C>T	ENSP00000266070:p.Glu1213Lys					DIDO1_ENST00000395343.1_Missense_Mutation_p.E1213K	p.E1213K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	3962	-	Breast(26;5.68e-08)		1213					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3637G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456957	0.84317	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10860	2.83;2.83	5.64	5.64	0.86602	.	0.000000	0.43416	D	0.000568	T	0.36524	0.0970	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.02464	-1.1155	10	0.45353	T	0.12	-49.4445	20.0627	0.97684	0.0:1.0:0.0:0.0	.	1213	Q9BTC0	DIDO1_HUMAN	K	1213	ENSP00000266070:E1213K;ENSP00000378752:E1213K	ENSP00000266070:E1213K	E	-	1	0	DIDO1	60984116	1.000000	0.71417	0.977000	0.42913	0.005000	0.04900	7.242000	0.78210	2.816000	0.96949	0.563000	0.77884	GAA		0.493	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		21	73	0	0	0	1	0	21	73				
ERBB3	2065	broad.mit.edu	37	12	56487295	56487295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56487295C>T	ENST00000267101.3	+	12	1881	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R422*|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	481					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)			TACGGAAGAGCGACTAGACAT	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(1441-1443)Cga>Tga		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							73.0	72.0	73.0					12																	56487295		2203	4300	6503	SO:0001587	stop_gained	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.chr12:56487295C>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.1441C>T	12.37:g.56487295C>T	ENSP00000267101:p.Arg481*					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R422*	p.R481*	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		12	1881	+			481					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Nonsense_Mutation	SNP	ENST00000267101.3	37	c.1441C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	40	8.135638	0.98670	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	.	.	.	5.06	2.66	0.31614	.	0.079672	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2891	0.43586	0.6638:0.3362:0.0:0.0	.	.	.	.	X	481;422	.	ENSP00000267101:R481X	R	+	1	2	ERBB3	54773562	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	2.513000	0.45494	0.383000	0.24910	-0.262000	0.10625	CGA		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	63	0	0	0	1	0	9	63				
RHBDL3	162494	broad.mit.edu	37	17	30625115	30625115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:30625115G>T	ENST00000269051.4	+	6	687	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	RHBDL3_ENST00000538145.1_Nonsense_Mutation_p.E217*|RHBDL3_ENST00000536287.1_Nonsense_Mutation_p.E127*	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	225						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGGATAGAACACCTGGG	0.522																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(673-675)Gaa>Taa		rhomboid, veinlet-like 3 (Drosophila)							161.0	137.0	145.0					17																	30625115		2203	4300	6503	SO:0001587	stop_gained	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30625115G>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.673G>T	17.37:g.30625115G>T	ENSP00000269051:p.Glu225*					RHBDL3_ENST00000536287.1_Nonsense_Mutation_p.E127*|RHBDL3_ENST00000538145.1_Nonsense_Mutation_p.E217*	p.E225*	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			6	687	+		Breast(31;0.116)|Ovarian(249;0.182)	225					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Nonsense_Mutation	SNP	ENST00000269051.4	37	c.673G>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	37	6.091904	0.97276	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-28.1611	19.8863	0.96913	0.0:0.0:1.0:0.0	.	.	.	.	X	225;225;217;127	.	ENSP00000269051:E225X	E	+	1	0	RHBDL3	27649228	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.102000	0.94226	2.706000	0.92434	0.561000	0.74099	GAA		0.522	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		12	80	1	0	7.03913e-09	1	7.20767e-09	12	80				
CFAP54	144535	broad.mit.edu	37	12	97078469	97078469	+	Silent	SNP	G	G	A	rs149195544		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:97078469G>A	ENST00000524981.4	+	41	5783	c.5760G>A	c.(5758-5760)gcG>gcA	p.A1920A				Q96N23	CL055_HUMAN		0								p.A345A(1)									AAGTTCAGGCGTTGCATTCAC	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17177	0.0		0.0	False		,,,				2504	0.0					ENST00000524981.3																			1	Substitution - coding silent(1)	p.A345A(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1111-1113)gcG>gcA									77.0	91.0	86.0					12																	97078469		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr12:97078469G>A																												ENST00000524981.4:c.5760G>A	12.37:g.97078469G>A							p.A371A			Q6ZTY8	CL063_HUMAN			8	1113	+			345						Silent	SNP	ENST00000524981.4	37	c.1113G>A																																																																																					0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			10	46	0	0	0	1	0	10	46				
PATZ1	23598	broad.mit.edu	37	22	31723224	31723224	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:31723224C>T	ENST00000266269.5	-	5	2346	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.D527N|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	573					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCTTCAGGTCGCTGGCATCT	0.498																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1717-1719)Gac>Aac		POZ (BTB) and AT hook containing zinc finger 1							84.0	87.0	86.0					22																	31723224		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31723224C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1717G>A	22.37:g.31723224C>T	ENSP00000266269:p.Asp573Asn					PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.D527N|RP3-400N23.6_ENST00000440456.1_RNA	p.D573N	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			5	2346	-			573					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1717G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375848	0.82682	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.09911	2.93;2.97	5.8	5.8	0.92144	.	0.057348	0.64402	D	0.000002	T	0.19406	0.0466	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.57324	0.652;0.818	T	0.00385	-1.1773	10	0.56958	D	0.05	-24.3951	19.0412	0.93000	0.0:1.0:0.0:0.0	.	527;573	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	N	573;527	ENSP00000266269:D573N;ENSP00000337520:D527N	ENSP00000266269:D573N	D	-	1	0	PATZ1	30053224	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	7.206000	0.77891	2.733000	0.93635	0.650000	0.86243	GAC		0.498	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		12	51	0	0	0	1	0	12	51				
KNDC1	85442	broad.mit.edu	37	10	134981778	134981778	+	Missense_Mutation	SNP	G	G	A	rs374098393		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:134981778G>A	ENST00000304613.3	+	3	343	c.322G>A	c.(322-324)Gtt>Att	p.V108I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V108I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V43I|KNDC1_ENST00000530127.1_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	108	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGTGCCTTCGTTCCCCCCGA	0.592																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(322-324)Gtt>Att		kinase non-catalytic C-lobe domain (KIND) containing 1							121.0	116.0	118.0					10																	134981778		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134981778G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.322G>A	10.37:g.134981778G>A	ENSP00000304437:p.Val108Ile					KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.V43I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V108I	p.V108I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	3	343	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	108			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.322G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911762	0.52439	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.73363	-0.74;-0.74;1.82	4.14	4.14	0.48551	KIND (2);	0.000000	0.53938	D	0.000041	T	0.79185	0.4403	L	0.55481	1.735	0.45528	D	0.998483	D;D	0.56287	0.975;0.957	P;B	0.57204	0.815;0.429	T	0.79174	-0.1912	10	0.40728	T	0.16	-22.6484	14.3225	0.66496	0.0:0.0:1.0:0.0	.	43;108	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	108;108;43	ENSP00000304437:V108I;ENSP00000357561:V108I;ENSP00000357560:V43I	ENSP00000304437:V108I	V	+	1	0	KNDC1	134831768	1.000000	0.71417	0.973000	0.42090	0.017000	0.09413	5.314000	0.65804	2.052000	0.61016	0.485000	0.47835	GTT		0.592	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		9	147	0	0	0	1	0	9	147				
GRIN3B	116444	broad.mit.edu	37	19	1005552	1005552	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1005552G>A	ENST00000234389.3	+	3	2071	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	684					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGACCCCAAGGTGGGCGGCC	0.701																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.e3+1		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						11.0	12.0	11.0					19																	1005552		2181	4272	6453	SO:0001630	splice_region_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005552G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2052+1G>A	19.37:g.1005552G>A							p.K684_splice	NM_138690.1	NP_619635.1	O60391	NMD3B_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	2071	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	684					Q5EAK7|Q7RTW9	Splice_Site	SNP	ENST00000234389.3	37	c.2052_splice	CCDS32861.1																																																																																				0.701	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		Silent	5	17	0	0	0	1	0	5	17				
PCDHB7	56129	broad.mit.edu	37	5	140552513	140552513	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140552513T>C	ENST00000231137.3	+	1	271	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	33					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCTTCGGTATTTTGTGGC	0.517																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(97-99)Tat>Cat									142.0	130.0	134.0					5																	140552513		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552513T>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.97T>C	5.37:g.140552513T>C	ENSP00000231137:p.Tyr33His						p.Y33H	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	271	+			33					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.97T>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657808	0.67586	.	.	ENSG00000113212	ENST00000231137	T	0.58060	0.36	4.79	4.79	0.61399	Cadherin, N-terminal (1);	.	.	.	.	D	0.82701	0.5094	H	0.98370	4.215	0.40951	D	0.984547	D	0.89917	1.0	D	0.97110	1.0	D	0.89887	0.4034	9	0.87932	D	0	.	14.2828	0.66224	0.0:0.0:0.0:1.0	.	33	Q9Y5E2	PCDB7_HUMAN	H	33	ENSP00000231137:Y33H	ENSP00000231137:Y33H	Y	+	1	0	PCDHB7	140532697	1.000000	0.71417	0.976000	0.42696	0.761000	0.43186	7.651000	0.83577	1.909000	0.55274	0.533000	0.62120	TAT		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		11	42	0	0	0	1	0	11	42				
LAMB2	3913	broad.mit.edu	37	3	49168460	49168460	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49168460G>A	ENST00000418109.1	-	8	1002	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R280C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	280	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGCCACGTACAACCAGC	0.592																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(838-840)Cgt>Tgt		laminin, beta 2 (laminin S)							154.0	141.0	145.0					3																	49168460		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168460G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.838C>T	3.37:g.49168460G>A	ENSP00000388325:p.Arg280Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R280C	p.R280C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	8	1002	-			280			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.838C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390279	0.62066	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.78364	-1.17;-1.17;-1.17	4.76	4.76	0.60689	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92961	0.6389	10	0.66056	D	0.02	.	17.0538	0.86527	0.0:0.0:1.0:0.0	.	280	P55268	LAMB2_HUMAN	C	280;280;131	ENSP00000388325:R280C;ENSP00000307156:R280C;ENSP00000444751:R131C	ENSP00000307156:R280C	R	-	1	0	LAMB2	49143464	1.000000	0.71417	0.881000	0.34555	0.545000	0.35147	7.054000	0.76649	2.630000	0.89119	0.655000	0.94253	CGT		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		16	65	0	0	0	1	0	16	65				
GLIS3	169792	broad.mit.edu	37	9	3856144	3856144	+	Missense_Mutation	SNP	G	G	A	rs537966660		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:3856144G>A	ENST00000324333.10	-	8	2066	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R780W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	625					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGAACTCTCCGGGGGCTGATG	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		19843	0.001		0.0	False		,,,				2504	0.0					ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1873-1875)Cgg>Tgg		GLIS family zinc finger 3							102.0	97.0	98.0					9																	3856144		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3856144G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1873C>T	9.37:g.3856144G>A	ENSP00000325494:p.Arg625Trp					GLIS3_ENST00000381971.3_Missense_Mutation_p.R780W|GLIS3_ENST00000461870.1_5'UTR	p.R625W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	8	2066	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	625					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1873C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	18.23	3.578101	0.65878	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11169	2.82;2.8	5.59	3.67	0.42095	.	0.274240	0.25180	N	0.032524	T	0.13200	0.0320	N	0.24115	0.695	0.23346	N	0.997862	D;D;D;D	0.71674	0.998;0.996;0.987;0.996	P;B;P;B	0.53861	0.736;0.425;0.629;0.425	T	0.05354	-1.0890	10	0.72032	D	0.01	.	10.5729	0.45211	0.0:0.1331:0.6068:0.2601	.	220;293;780;625	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	W	625;780	ENSP00000325494:R625W;ENSP00000371398:R780W	ENSP00000325494:R625W	R	-	1	2	GLIS3	3846144	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.550000	0.36223	0.659000	0.30945	0.561000	0.74099	CGG		0.463	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		6	22	0	0	0	1	0	6	22				
IGHMBP2	3508	broad.mit.edu	37	11	68675744	68675744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:68675744C>T	ENST00000255078.3	+	3	499	c.388C>T	c.(388-390)Cga>Tga	p.R130*	IGHMBP2_ENST00000539224.1_Nonsense_Mutation_p.R130*	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	130					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGCTTGGACCGAGAGAATTC	0.507																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	GRCh37	CM034524	IGHMBP2	M		c.(388-390)Cga>Tga		immunoglobulin mu binding protein 2							127.0	121.0	123.0					11																	68675744		2200	4294	6494	SO:0001587	stop_gained	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68675744C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.388C>T	11.37:g.68675744C>T	ENSP00000255078:p.Arg130*					IGHMBP2_ENST00000539224.1_Nonsense_Mutation_p.R130*	p.R130*	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	499	+			130					A0PJD2|Q00443|Q14177	Nonsense_Mutation	SNP	ENST00000255078.3	37	c.388C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435085	0.83885	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	.	.	.	4.09	3.17	0.36434	.	0.564181	0.16685	N	0.203777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.5401	10.4405	0.44462	0.3504:0.6496:0.0:0.0	.	.	.	.	X	130	.	ENSP00000255078:R130X	R	+	1	2	IGHMBP2	68432320	0.001000	0.12720	0.301000	0.25044	0.935000	0.57460	0.795000	0.26972	0.911000	0.36747	0.549000	0.68633	CGA		0.507	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		13	74	0	0	0	1	0	13	74				
RNF213	57674	broad.mit.edu	37	17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	rs76918558		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H|RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2945					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20774	0.001		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8833-8835)cGc>cAc		ring finger protein 213							48.0	38.0	42.0					17																	78320969		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320969G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8834G>A	17.37:g.78320969G>A	ENSP00000464087:p.Arg2945His					RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H	p.R2945H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8977	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8834G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	4.920	0.171040	0.09391	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.59083	0.29;1.91	5.82	-11.6	0.00059	.	2.299150	0.01130	N	0.005963	T	0.24812	0.0602	N	0.08118	0	0.09310	N	1	B	0.27882	0.192	B	0.11329	0.006	T	0.19257	-1.0311	10	0.40728	T	0.16	.	0.8571	0.01185	0.3302:0.2684:0.2067:0.1948	.	1018	Q63HN8	RN213_HUMAN	H	2945;2994;1018	ENSP00000425956:R2945H;ENSP00000338218:R1018H	ENSP00000338218:R1018H	R	+	2	0	RNF213	75935564	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.973000	0.01500	-2.041000	0.00915	-1.119000	0.02030	CGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	18	0	0	0	1	0	4	18				
ASMT	438	broad.mit.edu	37	X	1743283	1743283	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1743283C>T	ENST00000381229.4	+	3	402	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ASMT_ENST00000381241.3_Silent_p.D122D|ASMT_ENST00000381233.3_Silent_p.D122D			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	122					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	ACCTGGCAGACGCCGTGAGGT	0.672													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18650	0.0		0.0	False		,,,				2504	0.0					ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(364-366)gaC>gaT		acetylserotonin O-methyltransferase			,,	3,4403		0,3,2200	82.0	75.0	77.0		366,366,366	-1.5	0.0	X	dbSNP_134	77	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	0,4,6495	TT,TC,CC		0.0116,0.0681,0.0308	,,	122/374,122/299,122/374	1743283	4,12994	2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743283C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.366C>T	X.37:g.1743283C>T						ASMT_ENST00000381233.3_Silent_p.D122D|ASMT_ENST00000381229.4_Silent_p.D122D	p.D122D	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			3	565	+		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)	122					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.366C>T																																																																																					0.672	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		10	56	0	0	0	1	0	10	56				
PRKCZ	5590	broad.mit.edu	37	1	2105390	2105390	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:2105390G>T	ENST00000400921.2	+	11	1474	c.791G>T	c.(790-792)gGg>gTg	p.G264V	PRKCZ_ENST00000400920.1_Missense_Mutation_p.G264V|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ATGATGGCCGGGCGCTCCCCG	0.627											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(790-792)gGg>gTg		protein kinase C, zeta							151.0	127.0	135.0					1																	2105390		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2105390G>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.791G>T	1.37:g.2105390G>T	ENSP00000383712:p.Gly264Val		OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	601	PRKCZ_ENST00000400920.1_Missense_Mutation_p.G264V|PRKCZ_ENST00000479263.1_3'UTR	p.G264V	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	11	1474	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	447			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.791G>T	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038383	0.54896	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.93	3.99	0.46301	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	0.80154	0.4571	H	0.99830	4.82	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	0.88085	0.2809	10	0.87932	D	0	.	13.1368	0.59413	0.0:0.1626:0.8374:0.0	.	343;271;343;447	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	V	447;264;343;264	ENSP00000367830:G447V;ENSP00000383712:G264V;ENSP00000426412:G343V;ENSP00000383711:G264V	ENSP00000367830:G447V	G	+	2	0	PRKCZ	2095250	1.000000	0.71417	0.213000	0.23690	0.011000	0.07611	9.044000	0.93805	1.172000	0.42781	0.585000	0.79938	GGG		0.627	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		23	91	1	0	5.35356e-11	1	5.505e-11	23	91				
NT5C2	22978	broad.mit.edu	37	10	104859733	104859733	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:104859733G>A	ENST00000404739.3	-	7	606	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	NT5C2_ENST00000423468.2_Missense_Mutation_p.R166W|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000343289.5_Missense_Mutation_p.R195W			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	195					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AACATACTCCGGTAGGACATG	0.393																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(583-585)Cgg>Tgg		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						137.0	129.0	131.0					10																	104859733		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104859733G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.583C>T	10.37:g.104859733G>A	ENSP00000383960:p.Arg195Trp					NT5C2_ENST00000404739.3_Missense_Mutation_p.R195W|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R166W	p.R195W	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	8	670	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	195					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.583C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981756	0.34942	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.91	5.0	0.66597	HAD-like domain (1);	0.113462	0.64402	D	0.000018	T	0.20659	0.0497	L	0.53617	1.68	0.50171	D	0.999857	P;P;P	0.44195	0.6;0.828;0.6	B;B;B	0.34931	0.066;0.192;0.066	T	0.03566	-1.1024	10	0.87932	D	0	-6.5553	14.54	0.67987	0.0:0.0:0.6836:0.3164	.	166;42;195	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	W	195;195;166;203;126;151	ENSP00000339479:R195W;ENSP00000383960:R195W;ENSP00000392236:R166W;ENSP00000396468:R203W;ENSP00000411330:R126W	ENSP00000339479:R195W	R	-	1	2	NT5C2	104849723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	1.471000	0.48121	0.655000	0.94253	CGG		0.393	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		10	87	0	0	0	1	0	10	87				
THBS2	7058	broad.mit.edu	37	6	169629715	169629715	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:169629715G>A	ENST00000366787.3	-	15	2460	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	737					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGGCATCGCCAATCCCGT	0.527																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2209-2211)ggC>ggT		thrombospondin 2							205.0	178.0	187.0					6																	169629715		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629715G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2211C>T	6.37:g.169629715G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G737G	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2460	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	737					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2211C>T	CCDS34574.1																																																																																				0.527	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		16	83	0	0	0	1	0	16	83				
SLCO4A1	28231	broad.mit.edu	37	20	61288118	61288118	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61288118C>T	ENST00000370507.1	+	1	408	c.312C>T	c.(310-312)ggC>ggT	p.G104G	SLCO4A1_ENST00000217159.1_Silent_p.G104G			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	104					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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGCCCAAGGGCATCCTGTTCT	0.647																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(310-312)ggC>ggT		solute carrier organic anion transporter family, member 4A1							41.0	37.0	38.0					20																	61288118		2203	4299	6502	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288118C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.312C>T	20.37:g.61288118C>T						SLCO4A1_ENST00000370507.1_Silent_p.G104G	p.G104G	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	517	+	Breast(26;3.65e-08)		104					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.312C>T	CCDS13501.1																																																																																				0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		3	17	0	0	0	1	0	3	17				
TRAPPC6B	122553	broad.mit.edu	37	14	39623467	39623467	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:39623467C>T	ENST00000330149.5	-	4	525	c.299G>A	c.(298-300)cGc>cAc	p.R100H	TRAPPC6B_ENST00000347691.5_Intron|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	100					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		AGTAAGCAGGCGAAATTTGTT	0.333																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(298-300)cGc>cAc		trafficking protein particle complex 6B							102.0	92.0	95.0					14																	39623467		1829	4085	5914	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39623467C>T	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.299G>A	14.37:g.39623467C>T	ENSP00000330289:p.Arg100His					TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	p.R100H	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	4	525	-	Hepatocellular(127;0.213)		100					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.299G>A	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186105	0.57909	.	.	ENSG00000182400	ENST00000330149	T	0.44482	0.92	6.08	5.19	0.71726	NO signalling/Golgi transport  ligand-binding domain (1);	0.222920	0.47455	D	0.000224	T	0.67239	0.2872	M	0.90309	3.105	0.80722	D	1	D;P	0.69078	0.997;0.66	P;B	0.60789	0.879;0.134	T	0.70908	-0.4744	10	0.44086	T	0.13	-23.4208	15.8169	0.78608	0.0:0.9341:0.0:0.0659	.	38;100	B4DFZ8;Q86SZ2	.;TPC6B_HUMAN	H	100	ENSP00000330289:R100H	ENSP00000330289:R100H	R	-	2	0	TRAPPC6B	38693218	0.822000	0.29219	1.000000	0.80357	0.994000	0.84299	1.539000	0.36104	2.894000	0.99253	0.591000	0.81541	CGC		0.333	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		4	11	0	0	0	1	0	4	11				
TAF15	8148	broad.mit.edu	37	17	34171788	34171788	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:34171788T>C	ENST00000588240.1	+	15	1600	c.1485T>C	c.(1483-1485)ggT>ggC	p.G495G	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Silent_p.G492G	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)		gaggctatggtggagaccgag	0.602			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.(1483-1485)ggT>ggC		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							73.0	62.0	65.0					17																	34171788		2203	4300	6503	SO:0001819	synonymous_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171788T>C	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.1485T>C	17.37:g.34171788T>C						TAF15_ENST00000311979.3_Silent_p.G492G|TAF15_ENST00000592237.1_Intron	p.G495G	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1600	+		Ovarian(249;0.17)	495			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	37	c.1485T>C	CCDS32623.1																																																																																				0.602	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		4	19	0	0	0	1	0	4	19				
SMOC1	64093	broad.mit.edu	37	14	70420167	70420167	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70420167G>A	ENST00000381280.4	+	3	549	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R99Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	99	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCCTGGAGCGGGCTCAAGCC	0.562																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(295-297)cGg>cAg		SPARC related modular calcium binding 1							123.0	118.0	120.0					14																	70420167		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70420167G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.296G>A	14.37:g.70420167G>A	ENSP00000370680:p.Arg99Gln					SMOC1_ENST00000361956.3_Missense_Mutation_p.R99Q	p.R99Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	3	549	+			99			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.296G>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968105	0.92855	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.66638	-0.22;-0.22	5.62	5.62	0.85841	Thyroglobulin type-1 (3);	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.76002	2.32	0.53688	D	0.999971	D;D	0.71674	0.995;0.998	D;D	0.79108	0.922;0.992	T	0.81504	-0.0903	10	0.45353	T	0.12	-19.4183	19.6522	0.95822	0.0:0.0:1.0:0.0	.	99;99	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	Q	99	ENSP00000355110:R99Q;ENSP00000370680:R99Q	ENSP00000355110:R99Q	R	+	2	0	SMOC1	69489920	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	9.286000	0.95898	2.634000	0.89283	0.591000	0.81541	CGG		0.562	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			30	99	0	0	0	1	0	30	99				
HSPG2	3339	broad.mit.edu	37	1	22172692	22172692	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:22172692G>A	ENST00000374695.3	-	64	8452	c.8373C>T	c.(8371-8373)taC>taT	p.Y2791Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2791	Ig-like C2-type 13.				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)	CCCGGCACACGTATTCACCCG	0.652																																						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.(8371-8373)taC>taT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						26.0	28.0	27.0					1																	22172692		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.chr1:22172692G>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.8373C>T	1.37:g.22172692G>A							p.Y2791Y	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)	64	8452	-		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)	2791			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.8373C>T	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		9	45	0	0	0	1	0	9	45				
SPTBN2	6712	broad.mit.edu	37	11	66468529	66468529	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66468529C>T	ENST00000533211.1	-	17	3372	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1014Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1014Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1014					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCGCCCACCCGGGCGGCGAT	0.701																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3040-3042)cGg>cAg		spectrin, beta, non-erythrocytic 2							28.0	32.0	30.0					11																	66468529		2198	4291	6489	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468529C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3041G>A	11.37:g.66468529C>T	ENSP00000432568:p.Arg1014Gln					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1014Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1014Q	p.R1014Q			O15020	SPTN2_HUMAN			17	3372	-			1014					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3041G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009171	0.54361	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52295	0.67;0.67;0.67	4.51	4.51	0.55191	.	0.065157	0.64402	D	0.000010	T	0.39655	0.1086	N	0.08118	0	0.34249	D	0.678603	D	0.76494	0.999	P	0.61070	0.883	T	0.52457	-0.8573	10	0.48119	T	0.1	.	6.717	0.23308	0.0:0.8057:0.0:0.1943	.	1014	O15020	SPTN2_HUMAN	Q	1014	ENSP00000432568:R1014Q;ENSP00000311489:R1014Q;ENSP00000433593:R1014Q	ENSP00000311489:R1014Q	R	-	2	0	SPTBN2	66225105	0.034000	0.19679	0.890000	0.34922	0.014000	0.08584	1.683000	0.37638	2.343000	0.79666	0.491000	0.48974	CGG		0.701	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	53	0	0	0	1	0	9	53				
UBE2O	63893	broad.mit.edu	37	17	74392306	74392306	+	Silent	SNP	G	G	A	rs139988070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:74392306G>A	ENST00000319380.7	-	14	2776	c.2712C>T	c.(2710-2712)agC>agT	p.S904S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	904					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGGGGTTTCGCTGGGCCACT	0.627																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2710-2712)agC>agT		ubiquitin-conjugating enzyme E2O		G		3,4403	6.2+/-15.9	0,3,2200	77.0	82.0	81.0		2712	-2.6	0.9	17	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBE2O	NM_022066.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		904/1293	74392306	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392306G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2712C>T	17.37:g.74392306G>A							p.S904S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2776	-			904					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.2712C>T	CCDS32742.1																																																																																				0.627	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		15	80	0	0	0	1	0	15	80				
FOXD2	2306	broad.mit.edu	37	1	47904283	47904283	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47904283G>A	ENST00000334793.5	+	1	2595	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	159					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TTCATCAGCGGCCGCTTCCCC	0.617																																						ENST00000334793.5																			0				lung(4)	4						c.(475-477)gGc>gAc		forkhead box D2							48.0	58.0	55.0					1																	47904283		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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.chr1:47904283G>A	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.476G>A	1.37:g.47904283G>A	ENSP00000335493:p.Gly159Asp						p.G159D	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2595	+			159					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.476G>A	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565665	0.27915	.	.	ENSG00000186564	ENST00000334793	D	0.95001	-3.58	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.255861	0.38326	U	0.001734	T	0.78368	0.4272	N	0.00254	-1.765	0.40710	D	0.982562	B	0.18013	0.025	B	0.31290	0.127	T	0.75107	-0.3434	10	0.10902	T	0.67	.	9.2358	0.37466	0.104:0.0:0.896:0.0	.	159	O60548	FOXD2_HUMAN	D	159	ENSP00000335493:G159D	ENSP00000335493:G159D	G	+	2	0	FOXD2	47676870	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.747000	0.26290	1.861000	0.53984	0.430000	0.28490	GGC		0.617	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		24	85	0	0	0	1	0	24	85				
CXXC1	30827	broad.mit.edu	37	18	47808995	47808995	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47808995T>C	ENST00000285106.6	-	15	2653	c.1939A>G	c.(1939-1941)Act>Gct	p.T647A	CXXC1_ENST00000412036.2_Missense_Mutation_p.T651A|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_3'UTR|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000347968.3_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	647					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGTCGGTAGTGAGGGGATCG	0.662																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1939-1941)Act>Gct		CXXC finger protein 1							122.0	112.0	115.0					18																	47808995		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47808995T>C	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1939A>G	18.37:g.47808995T>C	ENSP00000285106:p.Thr647Ala					CXXC1_ENST00000412036.2_Missense_Mutation_p.T651A|CXXC1_ENST00000589940.1_3'UTR	p.T647A	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			15	2653	-			647					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1939A>G	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357388	0.82243	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23754	1.89;1.89	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.44542	1.39	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75020	0.959;0.911;0.985	T	0.11991	-1.0565	10	0.41790	T	0.15	-17.7658	12.0834	0.53684	0.0:0.0:0.0:1.0	.	651;647;514	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	A	647;651	ENSP00000285106:T647A;ENSP00000390475:T651A	ENSP00000285106:T647A	T	-	1	0	CXXC1	46062993	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	6.019000	0.70818	1.797000	0.52628	0.472000	0.43445	ACT		0.662	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		17	103	0	0	0	1	0	17	103				
PARP1	142	broad.mit.edu	37	1	226551700	226551700	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:226551700C>T	ENST00000366794.5	-	20	2873	c.2730G>A	c.(2728-2730)acG>acA	p.T910T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	910	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T910T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCCCTGAGACGTATGGCAGT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			1	Substitution - coding silent(1)	p.T910T(1)	prostate(1)	breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2728-2730)acG>acA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							136.0	121.0	126.0					1																	226551700		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226551700C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2730G>A	1.37:g.226551700C>T						PARP1_ENST00000490921.1_5'UTR	p.T910T	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	20	2873	-	Breast(184;0.133)		910			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2730G>A	CCDS1554.1																																																																																				0.498	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		14	49	0	0	0	1	0	14	49				
ZNF398	57541	broad.mit.edu	37	7	148875783	148875783	+	Silent	SNP	G	G	A	rs201966256		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:148875783G>A	ENST00000475153.1	+	6	1086	c.819G>A	c.(817-819)tcG>tcA	p.S273S	ZNF398_ENST00000335901.4_Silent_p.S102S|ZNF398_ENST00000420008.2_Silent_p.S102S|ZNF398_ENST00000483892.1_Silent_p.S102S|ZNF398_ENST00000426851.2_Silent_p.S102S|ZNF398_ENST00000491174.1_Silent_p.S102S|ZNF398_ENST00000540950.1_Silent_p.S278S			Q8TD17	ZN398_HUMAN	zinc finger protein 398	273					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTAGATCCTCGTTGTGCCCTG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21742	0.001		0.0	False		,,,				2504	0.0					ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(304-306)tcG>tcA		zinc finger protein 398							194.0	187.0	189.0					7																	148875783		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148875783G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.819G>A	7.37:g.148875783G>A						ZNF398_ENST00000491174.1_Silent_p.S102S|ZNF398_ENST00000483892.1_Silent_p.S102S|ZNF398_ENST00000335901.4_Silent_p.S102S|ZNF398_ENST00000475153.1_Silent_p.S273S|ZNF398_ENST00000540950.1_Silent_p.S278S|ZNF398_ENST00000426851.2_Silent_p.S102S	p.S102S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1094	+	Melanoma(164;0.15)		273					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	c.306G>A	CCDS5894.1																																																																																				0.463	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			21	140	0	0	0	1	0	21	140				
IGSF1	3547	broad.mit.edu	37	X	130408141	130408141	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:130408141C>T	ENST00000361420.3	-	19	3870	c.3791G>A	c.(3790-3792)cGa>cAa	p.R1264Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R1255Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1269Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.R1255Q|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1264					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGCTACTTCGGACAATGTT	0.517																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3763-3765)cGa>cAa		immunoglobulin superfamily, member 1							235.0	199.0	211.0					X																	130408141		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408141C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3791G>A	X.37:g.130408141C>T	ENSP00000355010:p.Arg1264Gln					IGSF1_ENST00000361420.3_Missense_Mutation_p.R1264Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1269Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1255Q	p.R1255Q			Q8N6C5	IGSF1_HUMAN			25	4674	-			1264					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3764G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136548	0.77662	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00873	5.61;5.61;5.61;5.59	4.48	3.62	0.41486	.	0.000000	0.42420	D	0.000709	T	0.03608	0.0103	M	0.67700	2.07	0.28632	N	0.907592	D;D;D	0.89917	0.981;1.0;0.998	P;D;D	0.83275	0.867;0.996;0.945	T	0.09552	-1.0669	10	0.56958	D	0.05	.	7.4211	0.27073	0.0:0.882:0.0:0.118	.	1255;708;1264	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	1255;1264;1255;1269	ENSP00000359947:R1255Q;ENSP00000355010:R1264Q;ENSP00000359941:R1255Q;ENSP00000359940:R1269Q	ENSP00000355010:R1264Q	R	-	2	0	IGSF1	130235822	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.888000	0.39708	1.228000	0.43614	0.544000	0.68410	CGA		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			23	64	0	0	0	1	0	23	64				
JADE2	23338	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(592-594)Gag>Aag									220.0	169.0	186.0					5																	133896555		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133896555G>A																												ENST00000402835.1:c.592G>A	5.37:g.133896555G>A	ENSP00000384671:p.Glu198Lys					PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K	p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	771	+			198						Missense_Mutation	SNP	ENST00000402835.1	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	PHF15	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG		0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			11	53	0	0	0	1	0	11	53				
ERCC5	2073	broad.mit.edu	37	13	103504506	103504506	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103504506C>T	ENST00000355739.4	+	2	1550	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ERCC5_ENST00000535557.1_Missense_Mutation_p.R43W|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	43	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAGGAGTCCGGGATCGCCA	0.378			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(127-129)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							128.0	131.0	130.0					13																	103504506		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103504506C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.127C>T	13.37:g.103504506C>T	ENSP00000347978:p.Arg43Trp					ERCC5_ENST00000535557.1_Missense_Mutation_p.R43W|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468L	p.R43W	NM_000123.3	NP_000114.2					2	1550	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.127C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174475	0.57692	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.69926	-0.44;-0.44	5.39	3.47	0.39725	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.88105	2.93	0.54753	D	0.999988	B;B;P	0.36616	0.26;0.178;0.561	B;B;B	0.37387	0.248;0.065;0.128	T	0.73353	-0.4009	10	0.72032	D	0.01	-16.4647	8.4298	0.32750	0.2594:0.6527:0.0:0.0879	.	43;43;468	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	W	468;43;43	ENSP00000347978:R43W;ENSP00000442117:R43W	ENSP00000347978:R43W	R	+	1	2	ERCC5	102302507	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.390000	0.44416	1.269000	0.44280	-0.233000	0.12211	CGG		0.378	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			11	26	0	0	0	1	0	11	26				
SULT1A1	6817	broad.mit.edu	37	16	28620207	28620207	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:28620207G>A	ENST00000569554.1	-	0	34				SULT1A1_ENST00000395609.1_Intron|SULT1A1_ENST00000395607.1_Intron|SULT1A1_ENST00000314752.7_Intron|SULT1A1_ENST00000350842.4_Intron			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGCCAGGCCCGTTCCCTTACC	0.582																																						ENST00000569554.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16								sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							33.0	35.0	35.0					16																	28620207		2192	4288	6480			6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620207G>A	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000569554.1:c.-31C>T	16.37:g.28620207G>A						SULT1A1_ENST00000314752.7_Intron|SULT1A1_ENST00000395607.1_Intron|SULT1A1_ENST00000395609.1_Intron|SULT1A1_ENST00000350842.4_Intron				P50225	ST1A1_HUMAN			0	34	-								Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Translation_Start_Site	SNP	ENST00000569554.1	37		CCDS32420.1																																																																																				0.582	SULT1A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430985.1	NM_001055		8	73	0	0	0	1	0	8	73				
MCHR2	84539	broad.mit.edu	37	6	100390836	100390836	+	Silent	SNP	G	G	A	rs201955415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:100390836G>A	ENST00000281806.2	-	4	890	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MCHR2_ENST00000369212.2_Silent_p.D192D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17061	0.0		0.0	False		,,,				2504	0.0					ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(574-576)gaC>gaT		melanin-concentrating hormone receptor 2							126.0	115.0	119.0					6																	100390836		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390836G>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.576C>T	6.37:g.100390836G>A						MCHR2_ENST00000445970.1_Silent_p.D192D|MCHR2_ENST00000369212.1_Silent_p.D192D	p.D192D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	890	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	192					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.576C>T	CCDS5044.1																																																																																				0.413	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		6	58	0	0	0	1	0	6	58				
CPA1	1357	broad.mit.edu	37	7	130021608	130021608	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(283-285)tcG>tcA		carboxypeptidase A1 (pancreatic)							71.0	60.0	64.0					7																	130021608		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130021608G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.285G>A	7.37:g.130021608G>A			OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	CPA1_ENST00000484324.1_Silent_p.S7S	p.S95S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			3	435	+	Melanoma(18;0.0435)		95					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.285G>A	CCDS5820.1																																																																																				0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		8	40	0	0	0	1	0	8	40				
MFGE8	4240	broad.mit.edu	37	15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	rs141213799	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89453092G>A	ENST00000566497.1	-	2	197	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.R46*|MFGE8_ENST00000539437.1_Nonsense_Mutation_p.R38*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.R46*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	46	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)					ACATCTCCTCGCACTTCTTGG	0.532													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22593	0.0		0.0	False		,,,				2504	0.001					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.(112-114)Cga>Tga		milk fat globule-EGF factor 8 protein							178.0	148.0	158.0					15																	89453092		2200	4299	6499	SO:0001587	stop_gained	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453092G>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.136C>T	15.37:g.89453092G>A	ENSP00000456281:p.Arg46*					MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.R46*|MFGE8_ENST00000566497.1_Nonsense_Mutation_p.R46*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.R46*	p.R38*			Q08431	MFGM_HUMAN			3	248	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		46			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Nonsense_Mutation	SNP	ENST00000566497.1	37	c.112C>T	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826639	0.71143	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	.	.	.	5.39	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-13.039	13.0212	0.58789	0.0:0.0:0.6053:0.3946	.	.	.	.	X	46;46;38	.	ENSP00000268150:R46X	R	-	1	2	MFGE8	87254096	0.990000	0.36364	0.303000	0.25071	0.015000	0.08874	2.082000	0.41605	1.403000	0.46800	0.561000	0.74099	CGA		0.532	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		15	104	0	0	0	1	0	15	104				
COBL	23242	broad.mit.edu	37	7	51095820	51095820	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:51095820C>A	ENST00000265136.7	-	10	3138	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	COBL_ENST00000395542.2_Missense_Mutation_p.Q1073H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	991					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCACAGCTCTGTCCCACAG	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3217-3219)caG>caT		cordon-bleu WH2 repeat protein							71.0	65.0	67.0					7																	51095820		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095820C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2973G>T	7.37:g.51095820C>A	ENSP00000265136:p.Gln991His					COBL_ENST00000265136.7_Missense_Mutation_p.Q991H	p.Q1073H			O75128	COBL_HUMAN			12	3403	-	Glioma(55;0.08)		991					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3219G>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272122	0.59649	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.13307	2.61;2.61;2.6;2.6	4.88	-0.493	0.12038	.	0.367805	0.20050	N	0.100332	T	0.16471	0.0396	L	0.32530	0.975	0.09310	N	1	B;B;D;D;D	0.76494	0.396;0.133;0.976;0.969;0.999	B;B;P;P;D	0.65443	0.105;0.105;0.556;0.655;0.935	T	0.09907	-1.0653	10	0.56958	D	0.05	.	1.9655	0.03395	0.1363:0.4144:0.1202:0.329	.	991;1048;991;1073;533	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	H	991;883;876;1073	ENSP00000265136:Q991H;ENSP00000401204:Q883H;ENSP00000413498:Q876H;ENSP00000378912:Q1073H	ENSP00000265136:Q991H	Q	-	3	2	COBL	51063314	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.710000	0.05024	0.004000	0.14682	-0.471000	0.05019	CAG		0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	50	1	0	1.08611e-07	1	1.10743e-07	10	50				
HIST1H2AH	85235	broad.mit.edu	37	6	27115008	27115008	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:27115008T>C	ENST00000377459.1	+	1	148	c.101T>C	c.(100-102)cTg>cCg	p.L34P	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	34						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L34R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCACCGCCTGCTCCGCAAG	0.652																																						ENST00000377459.1																			1	Substitution - Missense(1)	p.L34R(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(100-102)cTg>cCg		histone cluster 1, H2ah							44.0	49.0	47.0					6																	27115008		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115008T>C	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.101T>C	6.37:g.27115008T>C	ENSP00000366679:p.Leu34Pro						p.L34P	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	148	+			34						Missense_Mutation	SNP	ENST00000377459.1	37	c.101T>C	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	T	5.294	0.239652	0.10023	.	.	ENSG00000184825	ENST00000377459	T	0.68479	-0.33	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.32287	N	0.006301	T	0.58018	0.2093	M	0.83384	2.64	0.49798	D	0.999829	B	0.28636	0.218	B	0.30495	0.116	T	0.68640	-0.5355	10	0.87932	D	0	.	11.4199	0.49976	0.0:0.0:0.0:1.0	.	34	Q96KK5	H2A1H_HUMAN	P	34	ENSP00000366679:L34P	ENSP00000366679:L34P	L	+	2	0	HIST1H2AH	27222987	0.994000	0.37717	0.470000	0.27216	0.001000	0.01503	5.445000	0.66594	1.740000	0.51718	0.533000	0.62120	CTG		0.652	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		9	48	0	0	0	1	0	9	48				
ENTHD2	146705	broad.mit.edu	37	17	79207242	79207242	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:79207242G>A	ENST00000300714.3	-	7	573	c.516C>T	c.(514-516)caC>caT	p.H172H	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.H20H|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	172						cytoplasmic vesicle (GO:0031410)											CCGTGCGGCCGTGTTCCTTGC	0.682																																						ENST00000374769.2																			0											c.(58-60)caC>caT		ENTH domain containing 2							46.0	43.0	44.0					17																	79207242		2203	4300	6503	SO:0001819	synonymous_variant	146705							g.chr17:79207242G>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.516C>T	17.37:g.79207242G>A						ENTHD2_ENST00000300714.3_Silent_p.H172H|AC027601.1_ENST00000575922.1_RNA	p.H20H							7	537	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.60C>T	CCDS11779.1																																																																																				0.682	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	24	0	0	0	1	0	3	24				
SLC52A2	79581	broad.mit.edu	37	8	145583505	145583505	+	Missense_Mutation	SNP	C	C	A	rs117500243	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145583505C>A	ENST00000532887.1	+	3	936	c.353C>A	c.(352-354)gCc>gAc	p.A118D	FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	118					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TTAGCACTGGCCTTTGTGCTG	0.592													C|||	7	0.00139776	0.0008	0.0014	5008	,	,		19045	0.0		0.004	False		,,,				2504	0.001					ENST00000532887.1																			0											c.(352-354)gCc>gAc		solute carrier family 52 (riboflavin transporter), member 2		C	ASP/ALA	5,4401	9.9+/-24.2	0,5,2198	154.0	143.0	147.0		353	3.5	0.0	8	dbSNP_132	147	35,8565	24.0+/-70.4	0,35,4265	yes	missense	GPR172A	NM_024531.3	126	0,40,6463	AA,AC,CC		0.407,0.1135,0.3076	possibly-damaging	118/446	145583505	40,12966	2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583505C>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.353C>A	8.37:g.145583505C>A	ENSP00000436768:p.Ala118Asp					SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D	p.A118D			Q9HAB3	RFT3_HUMAN			3	936	+			118					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.353C>A	CCDS6423.1	5	0.0022893772893772895	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	10.54	1.379659	0.24944	0.001135	0.00407	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000540505	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	3.55	3.55	0.40652	.	0.281421	0.33980	N	0.004375	T	0.81683	0.4874	M	0.70275	2.135	0.35336	D	0.786042	P	0.43477	0.808	B	0.39419	0.299	D	0.85152	0.0987	9	.	.	.	.	8.8481	0.35184	0.0:0.7687:0.2313:0.0	.	118	Q9HAB3	RFT3_HUMAN	D	118;118;118;118;118;118;30	ENSP00000435820:A118D;ENSP00000434728:A118D;ENSP00000385961:A118D;ENSP00000431965:A118D;ENSP00000436768:A118D;ENSP00000333638:A118D;ENSP00000440400:A30D	.	A	+	2	0	GPR172A	145554313	0.972000	0.33761	0.008000	0.14137	0.090000	0.18270	3.652000	0.54439	1.821000	0.53095	0.462000	0.41574	GCC		0.592	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		6	90	1	0	0.00116845	1	0.00117654	6	90				
WDR54	84058	broad.mit.edu	37	2	74655813	74655813	+	IGR	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74655813G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Missense_Mutation_p.A301V|RTKN_ENST00000305557.5_Missense_Mutation_p.A288V|RTKN_ENST00000233330.6_Missense_Mutation_p.A251V	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGGCTGAGCTGCCAGACGGCA	0.627																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(862-864)gCa>gTa		rhotekin							36.0	35.0	35.0					2																	74655813		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74655813G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74655813G>A						RTKN_ENST00000233330.6_Missense_Mutation_p.A251V|RTKN_ENST00000272430.5_Missense_Mutation_p.A301V	p.A288V	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			9	1448	-			301					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.863C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	6.812	0.518961	0.13005	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.32272	1.46;1.47;1.47	5.41	2.32	0.28847	.	0.354380	0.32015	N	0.006708	T	0.11537	0.0281	N	0.08118	0	0.47905	D	0.999543	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.24870	-1.0148	10	0.05525	T	0.97	.	7.0591	0.25115	0.3598:0.0:0.6402:0.0	.	301;288	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	V	288;301;251	ENSP00000305298:A288V;ENSP00000272430:A301V;ENSP00000233330:A251V	ENSP00000233330:A251V	A	-	2	0	RTKN	74509321	0.962000	0.33011	0.979000	0.43373	0.954000	0.61252	1.638000	0.37165	0.158000	0.19367	0.563000	0.77884	GCA		0.627	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		3	24	0	0	0	1	0	3	24				
HTR1A	3350	broad.mit.edu	37	5	63256285	63256285	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:63256285C>T	ENST00000323865.3	-	1	1495	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	421					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)	TCATCACTGGCGGCAGAACTT	0.483																																						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.(1261-1263)cGc>cAc		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)						157.0	168.0	164.0					5																	63256285		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256285C>T	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.1262G>A	5.37:g.63256285C>T	ENSP00000316244:p.Arg421His					RP11-158J3.2_ENST00000502882.1_RNA	p.R421H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1495	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	421					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1262G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535253	0.64972	.	.	ENSG00000178394	ENST00000323865	T	0.40225	1.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.42245	1.32	0.58432	D	0.999996	D	0.89917	1.0	P	0.56088	0.791	T	0.49283	-0.8956	10	0.66056	D	0.02	.	14.2713	0.66154	0.0:0.9271:0.0:0.0729	.	421	P08908	5HT1A_HUMAN	H	421	ENSP00000316244:R421H	ENSP00000316244:R421H	R	-	2	0	HTR1A	63292041	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	2.439000	0.44846	2.747000	0.94245	0.650000	0.86243	CGC		0.483	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		31	142	0	0	0	1	0	31	142				
KLK15	55554	broad.mit.edu	37	19	51329944	51329944	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51329944T>C	ENST00000598239.1	-	4	581	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	KLK15_ENST00000326856.4_Missense_Mutation_p.Y183C|KLK15_ENST00000596931.1_Intron|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000416184.1_Intron|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000301421.2_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	184	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCGCCCTGGGTAGCTCTTGTC	0.567																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(547-549)tAc>tGc		kallikrein-related peptidase 15							123.0	114.0	117.0					19																	51329944		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329944T>C	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.551A>G	19.37:g.51329944T>C	ENSP00000469315:p.Tyr184Cys					KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.Y184C|KLK15_ENST00000416184.1_Intron	p.Y183C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	677	-		all_neural(266;0.057)	184			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.548A>G	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	t	14.39	2.520040	0.44866	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.52	4.52	0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40818	N	0.001011	D	0.85864	0.5796	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.85130	0.927;0.997	D	0.89297	0.3623	9	0.72032	D	0.01	.	12.1121	0.53846	0.0:0.0:0.0:1.0	.	183;184	Q6ISI0;Q9H2R5	.;KLK15_HUMAN	C	184	.	ENSP00000314783:Y184C	Y	-	2	0	KLK15	56021756	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	3.747000	0.55134	2.042000	0.60477	0.374000	0.22700	TAC		0.567	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		19	79	0	0	0	1	0	19	79				
ACKR3	57007	broad.mit.edu	37	2	237489181	237489181	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:237489181G>A	ENST00000272928.3	+	2	383	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	25					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CAACAGCAGCGACTGCATCGT	0.522																																						ENST00000272928.3																			0											c.(73-75)Gac>Aac		atypical chemokine receptor 3							181.0	116.0	138.0					2																	237489181		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489181G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.73G>A	2.37:g.237489181G>A	ENSP00000272928:p.Asp25Asn						p.D25N	NM_020311.2	NP_064707.1					2	383	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.73G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478358	0.44044	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.38240	1.15;1.15	5.7	4.83	0.62350	.	0.057267	0.64402	D	0.000002	T	0.26702	0.0653	L	0.29908	0.895	0.37186	D	0.90372	B	0.10296	0.003	B	0.06405	0.002	T	0.13150	-1.0520	10	0.42905	T	0.14	.	10.7723	0.46330	0.1441:0.0:0.8559:0.0	.	25	P25106	CXCR7_HUMAN	N	25	ENSP00000405945:D25N;ENSP00000272928:D25N	ENSP00000272928:D25N	D	+	1	0	CXCR7	237153920	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.955000	0.63638	1.418000	0.47098	0.655000	0.94253	GAC		0.522	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		8	32	0	0	0	1	0	8	32				
LMNA	4000	broad.mit.edu	37	1	156105740	156105740	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156105740C>T	ENST00000368300.4	+	6	1197	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	LMNA_ENST00000347559.2_Missense_Mutation_p.R329C|LMNA_ENST00000368301.2_Missense_Mutation_p.R329C|LMNA_ENST00000448611.2_Missense_Mutation_p.R217C|LMNA_ENST00000392353.3_Missense_Mutation_p.R248C|LMNA_ENST00000368297.1_Missense_Mutation_p.R248C|LMNA_ENST00000368299.3_Missense_Mutation_p.R329C|LMNA_ENST00000361308.4_Missense_Mutation_p.R329C|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.R230C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	329	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTCACTGGCCCGTGAGCGGGA	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(985-987)Cgt>Tgt		lamin A/C							23.0	29.0	27.0					1																	156105740		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156105740C>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.985C>T	1.37:g.156105740C>T	ENSP00000357283:p.Arg329Cys					LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.R230C|LMNA_ENST00000448611.2_Missense_Mutation_p.R217C|LMNA_ENST00000392353.3_Missense_Mutation_p.R248C|LMNA_ENST00000368297.1_Missense_Mutation_p.R248C|LMNA_ENST00000368299.3_Missense_Mutation_p.R329C|LMNA_ENST00000368301.2_Missense_Mutation_p.R329C|LMNA_ENST00000361308.4_Missense_Mutation_p.R329C|LMNA_ENST00000347559.2_Missense_Mutation_p.R329C	p.R329C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			6	1197	+	Hepatocellular(266;0.158)		329			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.985C>T	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083449	0.76642	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.67	5.67	0.87782	Filament (1);	0.000000	0.53938	D	0.000044	D	0.92815	0.7715	M	0.65975	2.015	0.80722	D	1	D;B;D;D;P;D;B	0.89917	1.0;0.315;1.0;1.0;0.903;0.999;0.386	D;B;D;D;B;P;B	0.72625	0.978;0.34;0.978;0.978;0.34;0.894;0.325	D	0.92921	0.6355	10	0.62326	D	0.03	.	17.2611	0.87070	0.0:1.0:0.0:0.0	.	217;329;230;248;329;329;329	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	C	329;329;329;329;329;329;329;217;248;230;248	ENSP00000357284:R329C;ENSP00000292304:R329C;ENSP00000355292:R329C;ENSP00000357283:R329C;ENSP00000357282:R329C;ENSP00000395597:R217C;ENSP00000357280:R248C;ENSP00000421821:R230C;ENSP00000376164:R248C	ENSP00000292302:R329C	R	+	1	0	LMNA	154372364	0.958000	0.32768	0.999000	0.59377	0.972000	0.66771	0.712000	0.25779	2.675000	0.91044	0.655000	0.94253	CGT		0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		9	32	0	0	0	1	0	9	32				
HLCS	3141	broad.mit.edu	37	21	38302558	38302558	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38302558G>A	ENST00000399120.1	-	6	2402	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.A391V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	391					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CACCTCCGCAGCTGACAGCAA	0.498																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1171-1173)gCt>gTt		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						78.0	71.0	73.0					21																	38302558		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38302558G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1172C>T	21.37:g.38302558G>A	ENSP00000382071:p.Ala391Val					HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.A391V	p.A391V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			6	2402	-		Myeloproliferative disorder(46;0.0422)	391					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1172C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108991	0.37242	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98135	-4.74;-4.74	5.14	2.37	0.29283	.	0.344540	0.33959	N	0.004398	D	0.93400	0.7895	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.12156	0.007;0.006	D	0.84472	0.0600	10	0.27785	T	0.31	.	10.2029	0.43097	0.2178:0.0:0.7822:0.0	.	391;391	B2RAH1;P50747	.;BPL1_HUMAN	V	391	ENSP00000382071:A391V;ENSP00000338387:A391V	ENSP00000338387:A391V	A	-	2	0	HLCS	37224428	0.065000	0.20965	0.001000	0.08648	0.035000	0.12851	2.413000	0.44618	0.286000	0.22352	0.650000	0.86243	GCT		0.498	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			8	51	0	0	0	1	0	8	51				
YTHDF1	54915	broad.mit.edu	37	20	61834854	61834854	+	Silent	SNP	C	C	T	rs563225888		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61834854C>T	ENST00000370339.3	-	4	779	c.438G>A	c.(436-438)gcG>gcA	p.A146A	YTHDF1_ENST00000370333.4_Silent_p.A96A|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCTCCCATACGCGGAGCTCT	0.592																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(436-438)gcG>gcA		YTH domain family, member 1							46.0	41.0	43.0					20																	61834854		2203	4299	6502	SO:0001819	synonymous_variant	54915							g.chr20:61834854C>T	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.438G>A	20.37:g.61834854C>T						YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.A96A	p.A146A	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	779	-			146					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.438G>A	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.118893	0.06838	.	.	ENSG00000149658	ENST00000342761	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.48926	0.1527	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67914	-0.5547	5	0.87932	D	0	-24.219	2.2379	0.04012	0.1097:0.1892:0.3761:0.325	.	.	.	.	H	45	.	ENSP00000339489:R45H	R	-	2	0	YTHDF1	61305299	0.000000	0.05858	0.010000	0.14722	0.779000	0.44077	-4.404000	0.00239	-4.566000	0.00042	-2.554000	0.00176	CGT		0.592	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		4	35	0	0	0	1	0	4	35				
SPATC1	375686	broad.mit.edu	37	8	145095639	145095639	+	Missense_Mutation	SNP	G	G	A	rs140635744	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145095639G>A	ENST00000377470.3	+	3	1039	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SPATC1_ENST00000447830.2_Missense_Mutation_p.A313T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	313						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAGTGCCGCCCAGGAACA	0.672													.|||	2	0.000399361	0.0015	0.0	5008	,	,		9076	0.0		0.0	False		,,,				2504	0.0					ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(937-939)Gcc>Acc		spermatogenesis and centriole associated 1							165.0	76.0	106.0					8																	145095639		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145095639G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.937G>A	8.37:g.145095639G>A	ENSP00000366690:p.Ala313Thr					SPATC1_ENST00000447830.2_Missense_Mutation_p.A313T	p.A313T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1039	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		313					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.937G>A	CCDS6413.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.109	0.018255	0.07959	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.50813	0.73	4.3	0.182	0.15077	.	0.616836	0.13554	N	0.379284	T	0.22704	0.0548	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13019	-1.0525	10	0.40728	T	0.16	-3.9888	1.4655	0.02405	0.1574:0.3398:0.3077:0.1951	.	313;313	B4DWW9;Q76KD6	.;SPERI_HUMAN	T	313	ENSP00000366690:A313T	ENSP00000366690:A313T	A	+	1	0	SPATC1	145167627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.051000	0.11885	-0.500000	0.06614	-1.786000	0.00637	GCC		0.672	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		6	38	0	0	0	1	0	6	38				
PEX7	5191	broad.mit.edu	37	6	137191048	137191048	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:137191048G>A	ENST00000318471.4	+	7	735	c.654G>A	c.(652-654)gcG>gcA	p.A218A	PEX7_ENST00000541292.1_Silent_p.A218A	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	218			A -> V (in RCDP1). {ECO:0000269|PubMed:9090381}.		endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.A218A(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403																																						ENST00000541292.1																			1	Substitution - coding silent(1)	p.A218A(1)	lung(1)	lung(7)|prostate(1)	8						c.(652-654)gcG>gcA		peroxisomal biogenesis factor 7							234.0	238.0	237.0					6																	137191048		2203	4300	6503	SO:0001819	synonymous_variant	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191048G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.654G>A	6.37:g.137191048G>A						PEX7_ENST00000318471.4_Silent_p.A218A	p.A218A			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	740	+	Colorectal(23;0.24)		218		A -> V (in RCDP1).			C0H5X6	Silent	SNP	ENST00000318471.4	37	c.654G>A	CCDS5180.1																																																																																				0.403	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		28	158	0	0	0	1	0	28	158				
AADAT	51166	broad.mit.edu	37	4	170987609	170987609	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:170987609T>C	ENST00000337664.4	-	10	1259	c.983A>G	c.(982-984)aAc>aGc	p.N328S	AADAT_ENST00000353187.2_Missense_Mutation_p.N328S|AADAT_ENST00000509167.1_Missense_Mutation_p.N332S|AADAT_ENST00000515480.1_Missense_Mutation_p.N328S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	328					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		ATCCTTCTGGTTACTATAGAA	0.403																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(982-984)aAc>aGc		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						108.0	102.0	104.0					4																	170987609		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170987609T>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.983A>G	4.37:g.170987609T>C	ENSP00000336808:p.Asn328Ser					AADAT_ENST00000515480.1_Missense_Mutation_p.N328S|AADAT_ENST00000509167.1_Missense_Mutation_p.N332S|AADAT_ENST00000353187.2_Missense_Mutation_p.N328S	p.N328S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	10	1259	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	328					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.983A>G	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	0.126	-1.119473	0.01785	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.5	-4.68	0.03309	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.168020	0.06211	N	0.684945	T	0.79118	0.4392	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.64309	-0.6438	10	0.14656	T	0.56	-0.0374	8.1535	0.31154	0.0:0.3845:0.2964:0.319	.	332;328	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	S	328;328;332;328	ENSP00000336808:N328S;ENSP00000423341:N328S;ENSP00000423190:N332S;ENSP00000226840:N328S	ENSP00000336808:N328S	N	-	2	0	AADAT	171224184	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.054000	0.03496	-0.798000	0.04444	-0.899000	0.02877	AAC		0.403	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		9	29	0	0	0	1	0	9	29				
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:153920995G>T	ENST00000368633.1	-	13	1927	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Missense_Mutation_p.F280L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1798-1800)ttC>ttA		CREB regulated transcription coactivator 2							134.0	122.0	126.0					1																	153920995		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153920995G>T	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1800C>A	1.37:g.153920995G>T	ENSP00000357622:p.Phe600Leu					CRTC2_ENST00000368630.3_Missense_Mutation_p.F280L	p.F600L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1927	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		600					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1800C>A	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	0.366	-0.936807	0.02340	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.36699	1.24;3.03	4.85	3.92	0.45320	.	0.079879	0.50627	N	0.000103	T	0.03136	0.0092	N	0.01352	-0.895	0.22001	N	0.999422	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42849	-0.9427	10	0.02654	T	1	-7.3105	11.5262	0.50582	0.0:0.3504:0.6495:0.0	.	600;280	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	L	280;600	ENSP00000357619:F280L;ENSP00000357622:F600L	ENSP00000357619:F280L	F	-	3	2	CRTC2	152187619	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	4.192000	0.58378	1.259000	0.44117	-0.537000	0.04273	TTC		0.592	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		6	50	1	0	0.00198382	1	0.00199479	6	50				
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	C	T	rs139469074		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:217297570C>T	ENST00000357276.4	+	8	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_ENST00000358207.5_Silent_p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	488	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(1462-1464)tcC>tcT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1		C	,	0,4406		0,0,2203	76.0	76.0	76.0		1464,1464	-11.0	0.1	2	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SMARCAL1	NM_001127207.1,NM_014140.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	488/955,488/955	217297570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217297570C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1464C>T	2.37:g.217297570C>T						SMARCAL1_ENST00000358207.5_Silent_p.S488S	p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	8	1794	+		Renal(323;0.0458)	488			Helicase ATP-binding.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.1464C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	7.329	0.618520	0.14129	0.0	1.16E-4	ENSG00000138375	ENST00000445153	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.49287	0.1548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62627	-0.6814	4	.	.	.	-19.689	11.317	0.49399	0.0811:0.585:0.0823:0.2516	.	.	.	.	L	46	.	.	P	+	2	0	SMARCAL1	217005815	0.000000	0.05858	0.103000	0.21229	0.755000	0.42902	-2.370000	0.01075	-2.092000	0.00857	-1.105000	0.02106	CCG		0.517	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			18	70	0	0	0	1	0	18	70				
MAP3K13	9175	broad.mit.edu	37	3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A	rs188669013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:185184670G>A	ENST00000265026.3	+	10	1896	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R521H(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18127	0.0		0.0	False		,,,				2504	0.0					ENST00000265026.3																			1	Substitution - Missense(1)	p.R521H(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1561-1563)cGt>cAt		mitogen-activated protein kinase kinase kinase 13							150.0	120.0	130.0					3																	185184670		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184670G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1562G>A	3.37:g.185184670G>A	ENSP00000265026:p.Arg521His					MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H	p.R521H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		10	1896	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		521						Missense_Mutation	SNP	ENST00000265026.3	37	c.1562G>A	CCDS3270.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.4	4.138601	0.77775	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.56	4.68	0.58851	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	P;D;P	0.56287	0.89;0.975;0.915	B;P;P	0.53035	0.329;0.716;0.475	T	0.06954	-1.0798	10	0.52906	T	0.07	.	16.1016	0.81175	0.0:0.0:0.865:0.135	.	377;314;521	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	314;521;377;377;521	ENSP00000411483:R314H;ENSP00000399910:R521H;ENSP00000409325:R377H;ENSP00000439257:R377H;ENSP00000265026:R521H	ENSP00000265026:R521H	R	+	2	0	MAP3K13	186667364	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.695000	0.98691	1.453000	0.47775	0.655000	0.94253	CGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		8	54	0	0	0	1	0	8	54				
PAPPA2	60676	broad.mit.edu	37	1	176526076	176526076	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:176526076G>A	ENST00000367662.3	+	2	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_ENST00000367661.3_Silent_p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	206					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGGCGGGCGGAAGATGGGC	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(616-618)gcG>gcA		pappalysin 2							87.0	95.0	93.0					1																	176526076		1984	4141	6125	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526076G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.618G>A	1.37:g.176526076G>A						PAPPA2_ENST00000367661.3_Silent_p.A206A	p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1782	+			206					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.618G>A	CCDS41438.1																																																																																				0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	101	0	0	0	1	0	23	101				
EPG5	57724	broad.mit.edu	37	18	43481010	43481010	+	Missense_Mutation	SNP	C	C	T	rs374899586		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:43481010C>T	ENST00000282041.5	-	26	4631	c.4597G>A	c.(4597-4599)Gcc>Acc	p.A1533T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1533					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGCTGGGTGGCGTCCTTCTGA	0.567																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4597-4599)Gcc>Acc		ectopic P-granules autophagy protein 5 homolog (C. elegans)		C	THR/ALA	1,4257		0,1,2128	72.0	77.0	75.0		4597	-9.6	0.0	18		75	0,8486		0,0,4243	no	missense	EPG5	NM_020964.2	58	0,1,6371	TT,TC,CC		0.0,0.0235,0.0078	benign	1533/2580	43481010	1,12743	2129	4243	6372	SO:0001583	missense	57724				autophagy			g.chr18:43481010C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4597G>A	18.37:g.43481010C>T	ENSP00000282041:p.Ala1533Thr					EPG5_ENST00000585906.1_5'UTR	p.A1533T	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			26	4631	-			1533					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4597G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999371	0.35226	2.35E-4	0.0	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10099	2.91	5.59	-9.57	0.00562	.	.	.	.	.	T	0.06142	0.0159	L	0.38175	1.15	0.18873	N	0.999984	B	0.15719	0.014	B	0.11329	0.006	T	0.32771	-0.9894	9	0.21540	T	0.41	1.8789	6.513	0.22232	0.0779:0.3445:0.0775:0.5002	.	1533	Q9HCE0	EPG5_HUMAN	T	1533;408	ENSP00000282041:A1533T	ENSP00000282041:A1533T	A	-	1	0	EPG5	41735008	0.001000	0.12720	0.002000	0.10522	0.955000	0.61496	-0.187000	0.09656	-1.941000	0.01042	0.563000	0.77884	GCC		0.567	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		5	45	0	0	0	1	0	5	45				
CSF1R	1436	broad.mit.edu	37	5	149460505	149460505	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149460505G>A	ENST00000286301.3	-	3	423	c.132C>T	c.(130-132)ggC>ggT	p.G44G	CSF1R_ENST00000543093.1_Silent_p.G44G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	44	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCTGCCATTGCCCACACATC	0.592																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(130-132)ggC>ggT		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						125.0	88.0	100.0					5																	149460505		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460505G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.132C>T	5.37:g.149460505G>A						CSF1R_ENST00000543093.1_Silent_p.G44G	p.G44G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	423	-			44			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.132C>T	CCDS4302.1																																																																																				0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		8	46	0	0	0	1	0	8	46				
LIM2	3982	broad.mit.edu	37	19	51890427	51890427	+	Intron	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51890427G>A	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Missense_Mutation_p.R91W	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		tctttgagccgcagagttctc	0.622																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(271-273)Cgg>Tgg		lens intrinsic membrane protein 2, 19kDa							49.0	43.0	45.0					19																	51890427		2203	4300	6503	SO:0001627	intron_variant	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51890427G>A		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.175+95C>T	19.37:g.51890427G>A						LIM2_ENST00000596399.1_Intron	p.R91W	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	2	313	-		all_neural(266;0.0529)	58					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.271C>T	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655382	0.29425	.	.	ENSG00000105370	ENST00000221973	.	.	.	3.97	-1.24	0.09435	.	4.661830	0.01204	N	0.007660	T	0.22244	0.0536	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	8	0.44086	T	0.13	.	0.2938	0.00262	0.3344:0.2049:0.261:0.1997	.	91	P55344-2	.	W	91	.	ENSP00000221973:R91W	R	-	1	2	LIM2	56582239	0.003000	0.15002	0.006000	0.13384	0.425000	0.31504	-0.084000	0.11268	0.054000	0.16065	-0.302000	0.09304	CGG		0.622	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		4	15	0	0	0	1	0	4	15				
DDR2	4921	broad.mit.edu	37	1	162729671	162729671	+	Missense_Mutation	SNP	G	G	A	rs376303676		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:162729671G>A	ENST00000367922.3	+	9	1195	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	253					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)	CGTGTGGCCCGGCTATGACTA	0.527																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(757-759)Ggc>Agc		discoidin domain receptor tyrosine kinase 2		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	118.0	104.0	109.0		757,757	4.7	0.9	1		109	0,8600		0,0,4300	no	missense,missense	DDR2	NM_001014796.1,NM_006182.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	253/856,253/856	162729671	1,13005	2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162729671G>A	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.757G>A	1.37:g.162729671G>A	ENSP00000356899:p.Gly253Ser					DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		9	1195	+	all_hematologic(112;0.115)		253					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.757G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072507	0.93950	2.27E-4	0.0	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.23552	1.9;1.9	5.63	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.76574	2.34	0.40712	D	0.982582	D	0.89917	1.0	D	0.97110	1.0	T	0.45629	-0.9248	9	0.49607	T	0.09	.	14.6117	0.68519	0.0:0.0:0.8528:0.1472	.	253	Q16832	DDR2_HUMAN	S	253	ENSP00000356899:G253S;ENSP00000356898:G253S	ENSP00000356898:G253S	G	+	1	0	DDR2	160996295	1.000000	0.71417	0.873000	0.34254	0.980000	0.70556	9.328000	0.96403	1.364000	0.46038	-0.202000	0.12741	GGC		0.527	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		18	56	0	0	0	1	0	18	56				
RTN4RL2	349667	broad.mit.edu	37	11	57243663	57243663	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:57243663T>C	ENST00000335099.3	+	3	859	c.542T>C	c.(541-543)cTg>cCg	p.L181P	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTGGCCAACCTGAGCCACCTC	0.667																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(541-543)cTg>cCg		reticulon 4 receptor-like 2							52.0	54.0	53.0					11																	57243663		2192	4273	6465	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243663T>C	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.542T>C	11.37:g.57243663T>C	ENSP00000335397:p.Leu181Pro						p.L181P	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			3	859	+			181						Missense_Mutation	SNP	ENST00000335099.3	37	c.542T>C	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170726	0.78452	.	.	ENSG00000186907	ENST00000335099	T	0.09911	2.93	4.52	4.52	0.55395	.	0.000000	0.32736	N	0.005718	T	0.51601	0.1684	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72786	-0.4188	10	0.87932	D	0	.	13.4947	0.61419	0.0:0.0:0.0:1.0	.	181	Q86UN3	R4RL2_HUMAN	P	181	ENSP00000335397:L181P	ENSP00000335397:L181P	L	+	2	0	RTN4RL2	57000239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	1.651000	0.50673	0.459000	0.35465	CTG		0.667	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		31	115	0	0	0	1	0	31	115				
NLRP8	126205	broad.mit.edu	37	19	56459552	56459552	+	Missense_Mutation	SNP	G	G	A	rs199475833		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:56459552G>A	ENST00000291971.3	+	1	355	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R95Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	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)		TTCCCTGGACGACGCGCTTGG	0.507																																						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.(283-285)cGa>cAa		NLR family, pyrin domain containing 8							112.0	105.0	107.0					19																	56459552		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459552G>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.284G>A	19.37:g.56459552G>A	ENSP00000291971:p.Arg95Gln					NLRP8_ENST00000590542.1_Missense_Mutation_p.R95Q	p.R95Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	355	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	95			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.284G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434217	0.12045	.	.	ENSG00000179709	ENST00000291971	T	0.47177	0.85	2.05	-3.19	0.05171	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	P;P	0.38745	0.645;0.472	B;B	0.25140	0.044;0.058	T	0.24119	-1.0169	9	0.10636	T	0.68	.	2.6615	0.05028	0.4719:0.0:0.3063:0.2217	.	95;95	Q86W28-2;Q86W28	.;NALP8_HUMAN	Q	95	ENSP00000291971:R95Q	ENSP00000291971:R95Q	R	+	2	0	NLRP8	61151364	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.472000	0.06623	-0.765000	0.04645	0.514000	0.50259	CGA		0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	38	0	0	0	1	0	6	38				
FGFR3	2261	broad.mit.edu	37	4	1805423	1805423	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1805423C>T	ENST00000260795.2	+	7	1037	c.935C>T	c.(934-936)gCg>gTg	p.A312V	FGFR3_ENST00000440486.2_Missense_Mutation_p.A312V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.A312V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	312	Ig-like C2-type 3.				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)	TTGTAGACGGCGGGCGCTAAC	0.612		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000440486.2		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.(934-936)gCg>gTg		fibroblast growth factor receptor 3	Palifermin(DB00039)						58.0	55.0	56.0					4																	1805423		2202	4300	6502	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.chr4:1805423C>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.935C>T	4.37:g.1805423C>T	ENSP00000260795:p.Ala312Val					FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.A312V|FGFR3_ENST00000481110.2_Missense_Mutation_p.A312V	p.A312V	NM_000142.4	NP_000133.1	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)		8	1191	+		Breast(71;0.212)|all_epithelial(65;0.241)	312			Ig-like C2-type 3.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.935C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	35	5.431844	0.96150	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	T;T;T;T	0.79352	-0.31;-0.31;-0.31;-1.26	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.593369	0.17187	N	0.183677	T	0.76133	0.3945	L	0.39898	1.24	0.80722	D	1	P;P;P;D	0.64830	0.484;0.928;0.92;0.994	B;B;B;P	0.47603	0.129;0.133;0.44;0.551	T	0.79478	-0.1787	10	0.56958	D	0.05	.	17.0932	0.86627	0.0:1.0:0.0:0.0	.	275;312;312;312	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	V	312;312;312;98	ENSP00000420533:A312V;ENSP00000414914:A312V;ENSP00000260795:A312V;ENSP00000427289:A98V	ENSP00000260795:A312V	A	+	2	0	FGFR3	1775221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.079000	0.62486	0.561000	0.74099	GCG		0.612	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		5	23	0	0	0	1	0	5	23				
RAB17	64284	broad.mit.edu	37	2	238494711	238494711	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:238494711G>A	ENST00000264601.3	-	2	716	c.87C>T	c.(85-87)tcC>tcT	p.S29S	RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000538644.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	29					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		ACTTACCCACGGAGCCACTTC	0.602																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.(85-87)tcC>tcT		RAB17, member RAS oncogene family							79.0	73.0	75.0					2																	238494711		2203	4300	6503	SO:0001819	synonymous_variant	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238494711G>A	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.87C>T	2.37:g.238494711G>A						RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_5'UTR	p.S29S	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	2	716	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	29					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Silent	SNP	ENST00000264601.3	37	c.87C>T	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230948	0.22542	.	.	ENSG00000124839	ENST00000430445	.	.	.	4.16	-8.33	0.00992	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	4	.	.	.	0.7317	1.6898	0.02849	0.174:0.2287:0.3712:0.2261	.	.	.	.	L	11	.	.	P	-	2	0	RAB17	238159450	0.000000	0.05858	0.063000	0.19743	0.988000	0.76386	-4.099000	0.00295	-2.186000	0.00760	-0.218000	0.12543	CCG		0.602	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			16	57	0	0	0	1	0	16	57				
PEX1	5189	broad.mit.edu	37	7	92146659	92146659	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:92146659T>C	ENST00000248633.4	-	5	1265	c.1170A>G	c.(1168-1170)ggA>ggG	p.G390G	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.G390G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	390					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCTTCAAGTCCATTCCAGA	0.358																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1168-1170)ggA>ggG		peroxisomal biogenesis factor 1							141.0	141.0	141.0					7																	92146659		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146659T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1170A>G	7.37:g.92146659T>C						PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.G390G	p.G390G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1265	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	390					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.1170A>G	CCDS5627.1																																																																																				0.358	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		10	43	0	0	0	1	0	10	43				
BCLAF1	9774	broad.mit.edu	37	6	136589310	136589310	+	Missense_Mutation	SNP	C	C	T	rs548504420		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:136589310C>T	ENST00000531224.1	-	10	2639	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794Q|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796Q|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	796					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2386-2388)cGa>cAa		BCL2-associated transcription factor 1							169.0	160.0	163.0					6																	136589310		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.chr6:136589310C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2387G>A	6.37:g.136589310C>T	ENSP00000435210:p.Arg796Gln					BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794Q|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796Q|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794Q	p.R796Q	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)	10	2639	-	Colorectal(23;0.24)		796					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2387G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886523	0.91814	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.53206	2.33;2.69;2.7;2.07;2.33;0.63;2.69	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000110	T	0.59622	0.2207	L	0.49126	1.545	0.50632	D	0.999889	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;0.997	D;D;D;D;D	0.83275	0.979;0.996;0.979;0.979;0.947	T	0.61753	-0.6998	10	0.72032	D	0.01	-3.812	19.3908	0.94581	0.0:1.0:0.0:0.0	.	794;124;794;796;623	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	Q	796;794;796;623;794;14;794	ENSP00000435210:R796Q;ENSP00000229446:R794Q;ENSP00000435441:R796Q;ENSP00000436501:R623Q;ENSP00000434826:R794Q;ENSP00000031135:R14Q;ENSP00000376159:R794Q	ENSP00000031135:R14Q	R	-	2	0	BCLAF1	136631003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.602000	0.87976	0.484000	0.47621	CGA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		6	76	0	0	0	1	0	6	76				
NFASC	23114	broad.mit.edu	37	1	204921196	204921196	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204921196G>A	ENST00000401399.1	+	4	366	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NFASC_ENST00000338515.6_Missense_Mutation_p.R56H|NFASC_ENST00000539706.1_Missense_Mutation_p.R50H|NFASC_ENST00000513543.1_Missense_Mutation_p.R50H|NFASC_ENST00000338586.6_Missense_Mutation_p.R56H|NFASC_ENST00000367172.4_Missense_Mutation_p.R56H|NFASC_ENST00000404907.1_Missense_Mutation_p.R50H|NFASC_ENST00000367171.4_Missense_Mutation_p.R56H|NFASC_ENST00000367169.4_Missense_Mutation_p.R56H|NFASC_ENST00000404076.1_Missense_Mutation_p.R50H|NFASC_ENST00000339876.6_Missense_Mutation_p.R56H|NFASC_ENST00000367170.4_Missense_Mutation_p.R56H|NFASC_ENST00000360049.4_Missense_Mutation_p.R50H|NFASC_ENST00000403080.1_Missense_Mutation_p.R56H			O94856	NFASC_HUMAN	neurofascin	56	Ig-like C2-type 1.				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)			GTGGACCCCCGTGATAACATC	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.(166-168)cGt>cAt		neurofascin							119.0	93.0	101.0					1																	204921196		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.chr1:204921196G>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.167G>A	1.37:g.204921196G>A	ENSP00000385637:p.Arg56His					NFASC_ENST00000338515.6_Missense_Mutation_p.R56H|NFASC_ENST00000360049.4_Missense_Mutation_p.R50H|NFASC_ENST00000338586.6_Missense_Mutation_p.R56H|NFASC_ENST00000513543.1_Missense_Mutation_p.R50H|NFASC_ENST00000404076.1_Missense_Mutation_p.R50H|NFASC_ENST00000404907.1_Missense_Mutation_p.R50H|NFASC_ENST00000367170.4_Missense_Mutation_p.R56H|NFASC_ENST00000401399.1_Missense_Mutation_p.R56H|NFASC_ENST00000367171.4_Missense_Mutation_p.R56H|NFASC_ENST00000403080.1_Missense_Mutation_p.R56H|NFASC_ENST00000367169.4_Missense_Mutation_p.R56H|NFASC_ENST00000339876.6_Missense_Mutation_p.R56H|NFASC_ENST00000539706.1_Missense_Mutation_p.R50H	p.R56H			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		5	495	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		56			Ig-like C2-type 1.		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.167G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.680934|5.680934	0.96774|0.96774	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.50627|.	D|.	0.000103|.	T|T	0.71400|0.71400	0.3335|0.3335	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D|.	0.89917|.	1.0;0.838;1.0;0.998;0.999;0.999|.	D;B;D;P;D;D|.	0.72625|.	0.975;0.144;0.978;0.856;0.955;0.94|.	T|T	0.68066|0.68066	-0.5507|-0.5507	10|5	0.46703|.	T|.	0.11|.	.|.	18.893|18.893	0.92412|0.92412	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	50;50;152;56;50;56|.	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.|.	H|M	56;56;56;56;56;56;50;50;50;56;56;56;50;56;56;50;50;26|26	ENSP00000356140:R56H;ENSP00000356139:R56H;ENSP00000356138:R56H;ENSP00000342128:R56H;ENSP00000344786:R56H;ENSP00000343509:R56H;ENSP00000438614:R50H;ENSP00000353154:R50H;ENSP00000356137:R56H;ENSP00000412161:R56H;ENSP00000384875:R56H;ENSP00000385676:R50H;ENSP00000385637:R56H;ENSP00000427586:R56H;ENSP00000384061:R50H;ENSP00000425908:R50H;ENSP00000415031:R26H|.	ENSP00000295776:R50H|.	R|V	+|+	2|1	0|0	NFASC|NFASC	203187819|203187819	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.965000|0.965000	0.64279|0.64279	9.717000|9.717000	0.98755|0.98755	2.559000|2.559000	0.86315|0.86315	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		9	41	0	0	0	1	0	9	41				
TRIM67	440730	broad.mit.edu	37	1	231299693	231299693	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:231299693C>T	ENST00000366653.5	+	1	978	c.978C>T	c.(976-978)tgC>tgT	p.C326C	TRIM67_ENST00000366652.2_Silent_p.C326C|TRIM67_ENST00000444294.3_Silent_p.C326C|TRIM67_ENST00000449018.3_Silent_p.C264C			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	326					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)			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)				GTTATCTGTGCCTGGAGGAGG	0.652																																						ENST00000444294.3																			0				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.(976-978)tgC>tgT		tripartite motif containing 67							18.0	22.0	21.0					1																	231299693		2062	4196	6258	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299693C>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.978C>T	1.37:g.231299693C>T						TRIM67_ENST00000366653.5_Silent_p.C326C|TRIM67_ENST00000449018.3_Silent_p.C264C|TRIM67_ENST00000366652.2_Silent_p.C326C	p.C326C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1836	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	326					Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.978C>T	CCDS44333.1																																																																																				0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		3	12	0	0	0	1	0	3	12				
WDR6	11180	broad.mit.edu	37	3	49049664	49049664	+	Missense_Mutation	SNP	G	G	A	rs190640692	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49049664G>A	ENST00000608424.1	+	2	736	c.697G>A	c.(697-699)Gtt>Att	p.V233I	WDR6_ENST00000448293.1_Missense_Mutation_p.V182I|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.V263I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	233					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGACCGAAGCGTTCGTATCTG	0.577																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(787-789)Gtt>Att		WD repeat domain 6							92.0	93.0	93.0					3																	49049664		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049664G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.697G>A	3.37:g.49049664G>A	ENSP00000477389:p.Val233Ile					WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.V182I|WDR6_ENST00000489684.1_3'UTR	p.V263I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1067	+			233					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.787G>A		.	.	.	.	.	.	.	.	.	.	G	14.07	2.425403	0.43020	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000448293	T;T;T	0.57107	0.42;0.42;0.42	5.62	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.192532	0.45126	D	0.000385	T	0.37705	0.1013	L	0.31120	0.905	0.42650	D	0.993445	P;P;P	0.52170	0.951;0.949;0.891	B;P;B	0.47915	0.32;0.561;0.32	T	0.26224	-1.0109	10	0.07482	T	0.82	-24.2026	6.3667	0.21459	0.14:0.2763:0.5837:0.0	.	104;233;182	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	263;265;182	ENSP00000378857:V263I;ENSP00000387692:V265I;ENSP00000413432:V182I	ENSP00000378857:V263I	V	+	1	0	WDR6	49024668	0.996000	0.38824	0.995000	0.50966	0.974000	0.67602	2.048000	0.41278	2.650000	0.89964	0.561000	0.74099	GTT		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			24	111	0	0	0	1	0	24	111				
ADARB2	105	broad.mit.edu	37	10	1405754	1405754	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:1405754C>T	ENST00000381312.1	-	3	871	c.546G>A	c.(544-546)gcG>gcA	p.A182A	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	182	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCCAGCTCCGCCGCGCGCA	0.711																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(544-546)gcG>gcA		adenosine deaminase, RNA-specific, B2 (non-functional)							37.0	33.0	34.0					10																	1405754		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405754C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.546G>A	10.37:g.1405754C>T							p.A182A	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	871	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	182			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.546G>A	CCDS7058.1																																																																																				0.711	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	28	0	0	0	1	0	5	28				
ITPRIPL2	162073	broad.mit.edu	37	16	19126687	19126687	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:19126687C>T	ENST00000381440.3	+	1	1434	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	302						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGCTGCTGCCGCCTTTCTAT	0.662											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(904-906)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor interacting protein-like 2							54.0	56.0	56.0					16																	19126687		2196	4300	6496	SO:0001583	missense	162073					integral to membrane		g.chr16:19126687C>T		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.904C>T	16.37:g.19126687C>T	ENSP00000370849:p.Arg302Cys		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	CTD-2349B8.1_ENST00000564808.2_Intron	p.R302C	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1434	+			302						Missense_Mutation	SNP	ENST00000381440.3	37	c.904C>T	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099143	0.76983	.	.	ENSG00000205730	ENST00000381440	T	0.19250	2.16	4.89	3.92	0.45320	.	0.128768	0.28946	U	0.013626	T	0.30293	0.0760	N	0.24115	0.695	0.47341	D	0.999399	D	0.76494	0.999	D	0.64877	0.93	T	0.08827	-1.0703	10	0.72032	D	0.01	-10.0651	14.3578	0.66750	0.1496:0.8504:0.0:0.0	.	302	Q3MIP1	IPIL2_HUMAN	C	302	ENSP00000370849:R302C	ENSP00000370849:R302C	R	+	1	0	ITPRIPL2	19034188	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.527000	0.60573	0.996000	0.38943	0.655000	0.94253	CGC		0.662	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		10	69	0	0	0	1	0	10	69				
HIST1H3B	8358	broad.mit.edu	37	6	26031878	26031878	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:26031878T>C	ENST00000244661.2	-	1	410	c.411A>G	c.(409-411)taA>taG	p.*137*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	0					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GACTTTACATTTACGCTCTTT	0.438																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(409-411)taA>taG		histone cluster 1, H3b							50.0	55.0	53.0					6																	26031878		2203	4300	6503	SO:0001819	synonymous_variant	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031878T>C	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.411A>G	6.37:g.26031878T>C							p.*137*	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	410	-			0					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	c.411A>G	CCDS4573.1																																																																																				0.438	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		10	44	0	0	0	1	0	10	44				
KLHDC7A	127707	broad.mit.edu	37	1	18809307	18809307	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:18809307G>T	ENST00000400664.1	+	1	1884	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	611						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGACCGCTGGGACTTT	0.706																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1831-1833)cGc>cTc		kelch domain containing 7A							23.0	24.0	24.0					1																	18809307		2202	4295	6497	SO:0001583	missense	127707					integral to membrane		g.chr1:18809307G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1832G>T	1.37:g.18809307G>T	ENSP00000383505:p.Arg611Leu						p.R611L	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1884	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	611					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1832G>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013987	0.75161	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78003	-1.14	5.2	3.32	0.38043	Kelch-type beta propeller (1);	0.065733	0.56097	D	0.000029	T	0.73923	0.3649	L	0.31526	0.94	0.35371	D	0.789094	P;P	0.43477	0.808;0.596	P;P	0.51516	0.672;0.539	T	0.78705	-0.2100	10	0.87932	D	0	.	8.8723	0.35323	0.079:0.0:0.7718:0.1492	.	548;611	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	611;548	ENSP00000383505:R611L	ENSP00000383505:R611L	R	+	2	0	KLHDC7A	18681894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.036000	0.57304	0.577000	0.29470	0.561000	0.74099	CGC		0.706	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	27	1	0	1	1	1	3	27				
PRKAR1A	5573	broad.mit.edu	37	17	66526538	66526538	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:66526538T>G	ENST00000589228.1	+	11	1222	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000588188.2_Intron	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	365					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCTCAGACATCCTCAAACGA	0.512			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(1093-1095)aTc>aGc		protein kinase, cAMP-dependent, regulatory, type I, alpha							233.0	183.0	200.0					17																	66526538		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66526538T>G		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1094T>G	17.37:g.66526538T>G	ENSP00000464977:p.Ile365Ser					PRKAR1A_ENST00000358598.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000588188.2_Intron	p.I365S	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			11	1222	+	Breast(10;1.64e-13)		365					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.1094T>G	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.707105	0.89018	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.89050	-2.46;-2.46;-2.46	5.9	5.9	0.94986	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.343855	0.33161	N	0.005213	D	0.96144	0.8743	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97201	0.9864	10	0.87932	D	0	-29.6188	16.3232	0.82961	0.0:0.0:0.0:1.0	.	365	P10644	KAP0_HUMAN	S	365	ENSP00000351410:I365S;ENSP00000376475:I365S;ENSP00000445625:I365S	ENSP00000351410:I365S	I	+	2	0	PRKAR1A	64038133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.006000	0.88564	2.254000	0.74563	0.482000	0.46254	ATC		0.512	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			15	63	0	0	0	1	0	15	63				
FES	2242	broad.mit.edu	37	15	91433508	91433508	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91433508G>A	ENST00000328850.3	+	9	1378	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	FES_ENST00000394302.1_Splice_Site_p.S354S|FES_ENST00000450438.2_Splice_Site_p.S354S|FES_ENST00000394300.3_Splice_Site_p.S354S|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Splice_Site_p.S412S|FES_ENST00000414248.2_Splice_Site_p.S354S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	412					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGTCGTCCTCGGTGAGCTGCC	0.726																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.e9+1		feline sarcoma oncogene							11.0	15.0	14.0					15																	91433508		2180	4255	6435	SO:0001630	splice_region_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433508G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1236+1G>A	15.37:g.91433508G>A						FES_ENST00000414248.2_Splice_Site_p.S354_splice|FES_ENST00000450438.2_Splice_Site_p.S354_splice|FES_ENST00000394300.3_Splice_Site_p.S354_splice|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Splice_Site_p.S412_splice|FES_ENST00000394302.1_Splice_Site_p.S354_splice	p.S412_splice	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		9	1378	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		412					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Splice_Site	SNP	ENST00000328850.3	37	c.1236_splice	CCDS10365.1																																																																																				0.726	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005	Silent	4	22	0	0	0	1	0	4	22				
ZNF521	25925	broad.mit.edu	37	18	22806101	22806101	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:22806101T>A	ENST00000361524.3	-	4	1929	c.1781A>T	c.(1780-1782)tAt>tTt	p.Y594F	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Y374F|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y594F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	594					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)					ATTGTGGATATAATTCAGGGC	0.428			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.(1780-1782)tAt>tTt		zinc finger protein 521							113.0	115.0	114.0					18																	22806101		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.chr18:22806101T>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.1781A>T	18.37:g.22806101T>A	ENSP00000354794:p.Tyr594Phe					ZNF521_ENST00000584787.1_Missense_Mutation_p.Y374F|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y594F	p.Y594F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1929	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		594					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1781A>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484093	0.26598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08896	3.04;3.07	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	N	0.14661	0.345	0.38650	D	0.951815	D	0.58268	0.982	D	0.67548	0.952	T	0.42481	-0.9449	10	0.15952	T	0.53	-26.6987	16.4781	0.84144	0.0:0.0:0.0:1.0	.	594	Q96K83	ZN521_HUMAN	F	594;628;594	ENSP00000354794:Y594F;ENSP00000382352:Y594F	ENSP00000354794:Y594F	Y	-	2	0	ZNF521	21060099	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.474000	0.81024	2.288000	0.76882	0.528000	0.53228	TAT		0.428	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	33	0	0	0	1	0	8	33				
CDKN2B	1030	broad.mit.edu	37	9	22006196	22006196	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:22006196G>A	ENST00000276925.6	-	2	616	c.207C>T	c.(205-207)ggC>ggT	p.G69G	CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	69					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|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)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		TGGGCTCCGCGCCGTGGAGCA	0.692																																						ENST00000276925.6																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(205-207)ggC>ggT		cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)							14.0	18.0	17.0					9																	22006196		2192	4290	6482	SO:0001819	synonymous_variant	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006196G>A	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.207C>T	9.37:g.22006196G>A						CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA	p.G69G	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	616	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	69					O15125|Q6FI09	Silent	SNP	ENST00000276925.6	37	c.207C>T	CCDS6512.1																																																																																				0.692	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		7	32	0	0	0	1	0	7	32				
DST	667	broad.mit.edu	37	6	56485250	56485250	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:56485250C>T	ENST00000370765.6	-	23	3689	c.3582G>A	c.(3580-3582)aaG>aaA	p.K1194K	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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)			TGCGGTACTGCTTGGCTTCAC	0.493																																						ENST00000370765.6																			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.(3580-3582)aaG>aaA		dystonin							95.0	92.0	93.0					6																	56485250		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:56485250C>T	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	ENST00000370765.6:c.3582G>A	6.37:g.56485250C>T						DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	p.K1194K	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3689	-	Lung NSC(77;0.103)		1535					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	c.3582G>A	CCDS4959.1																																																																																				0.493	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		9	44	0	0	0	1	0	9	44				
DSCAML1	57453	broad.mit.edu	37	11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				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)		TCTTCTAGGACGTGGCGGATC	0.617																																						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.(2449-2451)Gtc>Atc		Down syndrome cell adhesion molecule like 1							110.0	89.0	96.0					11																	117374650		2201	4296	6497	SO:0001583	missense	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.chr11:117374650C>T		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.2449G>A	11.37:g.117374650C>T	ENSP00000315465:p.Val817Ile					DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	p.V817I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2450	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	757			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2449G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745660	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69306	-0.39;-0.39	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71846	0.3388	L	0.35723	1.085	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	T	0.69363	-0.5165	9	0.27785	T	0.31	.	16.9369	0.86205	0.0:1.0:0.0:0.0	.	757	Q8TD84	DSCL1_HUMAN	I	547;817;524	ENSP00000434335:V547I;ENSP00000315465:V817I	ENSP00000315465:V817I	V	-	1	0	DSCAML1	116879860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.877000	0.69675	2.237000	0.73441	0.462000	0.41574	GTC		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		11	50	0	0	0	1	0	11	50				
PCDHA5	56143	broad.mit.edu	37	5	140203082	140203082	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140203082C>T	ENST00000529859.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.G574G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.G574G	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	574					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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCGGCGGCGCAGTGAGCG	0.682																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1720-1722)ggC>ggT									43.0	51.0	48.0					5																	140203082		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140203082C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1722C>T	5.37:g.140203082C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.G574G|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.G574G|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.G574G	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1722C>T	CCDS54917.1																																																																																				0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		8	99	0	0	0	1	0	8	99				
B4GALT2	8704	broad.mit.edu	37	1	44450661	44450661	+	Missense_Mutation	SNP	G	G	A	rs202199424		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:44450661G>A	ENST00000356836.6	+	4	1464	c.674G>A	c.(673-675)cGc>cAc	p.R225H	B4GALT2_ENST00000434555.2_Missense_Mutation_p.R159H|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R254H|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R225H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	225					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ATGGATGACCGCAACCTATAC	0.597																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(673-675)cGc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						80.0	69.0	73.0					1																	44450661		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44450661G>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.674G>A	1.37:g.44450661G>A	ENSP00000349293:p.Arg225His					B4GALT2_ENST00000372324.1_Missense_Mutation_p.R225H|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R159H|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R254H	p.R225H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			4	1464	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	225					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.674G>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056664	0.76074	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.64080	1.96	0.80722	D	1	D;P;D	0.89917	1.0;0.822;0.961	D;P;P	0.87578	0.998;0.514;0.646	T	0.48714	-0.9011	10	0.14252	T	0.57	-17.9127	18.8444	0.92198	0.0:0.0:1.0:0.0	.	254;159;225	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	H	225;159;225;254	ENSP00000361399:R225H;ENSP00000407468:R159H;ENSP00000349293:R225H;ENSP00000310696:R254H	ENSP00000310696:R254H	R	+	2	0	B4GALT2	44223248	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.948000	0.87774	2.468000	0.83385	0.436000	0.28706	CGC		0.597	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		6	31	0	0	0	1	0	6	31				
FLRT2	23768	broad.mit.edu	37	14	86089434	86089434	+	Missense_Mutation	SNP	G	G	A	rs182653425	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:86089434G>A	ENST00000330753.4	+	2	2343	c.1576G>A	c.(1576-1578)Gcg>Acg	p.A526T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A526T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	526					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCAACACAGCGTCCAGCCA	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		15324	0.002		0.0	False		,,,				2504	0.0					ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1576-1578)Gcg>Acg		fibronectin leucine rich transmembrane protein 2							96.0	95.0	95.0					14																	86089434		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089434G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1576G>A	14.37:g.86089434G>A	ENSP00000332879:p.Ala526Thr					FLRT2_ENST00000554746.1_Missense_Mutation_p.A526T	p.A526T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2343	+			526					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1576G>A	CCDS9877.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	1.272	-0.612789	0.03690	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.54071	0.59;0.59	6.17	6.17	0.99709	.	0.260149	0.39274	N	0.001408	T	0.29556	0.0737	N	0.05280	-0.08	0.33450	D	0.583521	B	0.20052	0.041	B	0.17098	0.017	T	0.19877	-1.0292	10	0.02654	T	1	-13.8009	16.0647	0.80863	0.0:0.2322:0.7678:0.0	.	526	O43155	FLRT2_HUMAN	T	526;526;179	ENSP00000332879:A526T;ENSP00000451050:A526T	ENSP00000332879:A526T	A	+	1	0	FLRT2	85159187	0.983000	0.35010	0.373000	0.26003	0.460000	0.32559	2.930000	0.48924	2.941000	0.99782	0.655000	0.94253	GCG		0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			19	124	0	0	0	1	0	19	124				
RALGPS1	9649	broad.mit.edu	37	9	129974998	129974998	+	Splice_Site	SNP	C	C	T	rs149497407	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:129974998C>T	ENST00000259351.5	+	16	1713	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	RALGPS1_ENST00000424082.2_Splice_Site_p.H440H|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Splice_Site_p.H440H	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	482	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.H440H(1)|p.H482H(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGAAAACACGTAAGTCCCT	0.552																																						ENST00000259351.5																			2	Substitution - coding silent(2)	p.H440H(1)|p.H482H(1)	large_intestine(2)	kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e16+1		Ral GEF with PH domain and SH3 binding motif 1		C	,,	3,4403	4.2+/-10.8	0,3,2200	77.0	62.0	67.0		1320,1320,1446	-2.0	1.0	9	dbSNP_134	67	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	RALGPS1	NM_001190728.1,NM_001190729.1,NM_014636.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	440/530,440/538,482/558	129974998	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129974998C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1446+1C>T	9.37:g.129974998C>T						RALGPS1_ENST00000373434.1_Splice_Site_p.H440_splice|RALGPS1_ENST00000424082.2_Splice_Site_p.H440_splice	p.H482_splice	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			16	1713	+			482			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Splice_Site	SNP	ENST00000259351.5	37	c.1446_splice	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531338	0.27387	6.81E-4	0.0	ENSG00000136828	ENST00000438723	.	.	.	5.19	-2.01	0.07410	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	11.3275	0.49456	0.0:0.1895:0.0:0.8105	.	.	.	.	I	78	.	.	T	+	2	0	RALGPS1	129014819	0.853000	0.29707	0.993000	0.49108	0.919000	0.55068	-0.111000	0.10807	-0.263000	0.09378	-0.137000	0.14449	ACT		0.552	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	Silent	4	29	0	0	0	1	0	4	29				
CREBBP	1387	broad.mit.edu	37	16	3781218	3781218	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3781218G>A	ENST00000262367.5	-	30	5956	c.5147C>T	c.(5146-5148)aCg>aTg	p.T1716M	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1678M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1716	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)		GTGCCAGCGCGTCTCCACGTG	0.657			"""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.(5146-5148)aCg>aTg		CREB binding protein							81.0	70.0	73.0					16																	3781218		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.chr16:3781218G>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.5147C>T	16.37:g.3781218G>A	ENSP00000262367:p.Thr1716Met					CREBBP_ENST00000382070.3_Missense_Mutation_p.T1678M	p.T1716M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5956	-		Ovarian(90;0.0266)	1716			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5147C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.212579	0.58452	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.91740	-2.9;-2.9	5.87	5.87	0.94306	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96310	0.9228	10	0.87932	D	0	-18.7525	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1746;1716	Q4LE28;Q92793	.;CBP_HUMAN	M	1716;1746;1678;251	ENSP00000262367:T1716M;ENSP00000371502:T1678M	ENSP00000262367:T1716M	T	-	2	0	CREBBP	3721219	1.000000	0.71417	0.966000	0.40874	0.878000	0.50629	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	ACG		0.657	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		11	53	0	0	0	1	0	11	53				
WIZ	58525	broad.mit.edu	37	19	15535752	15535752	+	Silent	SNP	G	G	A	rs374273293		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15535752G>A	ENST00000389282.4	-	8	4485	c.4272C>T	c.(4270-4272)ggC>ggT	p.G1424G	WIZ_ENST00000599910.2_Silent_p.G741G|WIZ_ENST00000545156.1_Silent_p.G738G|WIZ_ENST00000263381.7_Silent_p.G567G|WIZ_ENST00000599686.3_Silent_p.G608G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1424					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						ACTCGGTCACGCCGAACTGCC	0.657																																						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.(4270-4272)ggC>ggT		widely interspaced zinc finger motifs		G		0,4096		0,0,2048	12.0	14.0	13.0		1701	-9.2	0.7	19		13	2,8376		0,2,4187	no	coding-synonymous	WIZ	NM_021241.2		0,2,6235	AA,AG,GG		0.0239,0.0,0.016		567/795	15535752	2,12472	2048	4189	6237	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15535752G>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.4272C>T	19.37:g.15535752G>A						WIZ_ENST00000599910.1_Silent_p.G741G|WIZ_ENST00000263381.6_Silent_p.G567G|WIZ_ENST00000599686.2_Silent_p.G608G|WIZ_ENST00000545156.1_Silent_p.G738G	p.G1424G			O95785	WIZ_HUMAN			8	4485	-			1424					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.4272C>T																																																																																					0.657	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		3	8	0	0	0	1	0	3	8				
ZNF880	400713	broad.mit.edu	37	19	52887682	52887682	+	Silent	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52887682T>A	ENST00000422689.2	+	4	864	c.849T>A	c.(847-849)ctT>ctA	p.L283L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	283					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATTCTCACCTTGCAAATCATC	0.408																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(847-849)ctT>ctA		zinc finger protein 880							67.0	61.0	63.0					19																	52887682		1568	3582	5150	SO:0001819	synonymous_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887682T>A	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.849T>A	19.37:g.52887682T>A							p.L283L	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	864	+			283					B4DNA6	Silent	SNP	ENST00000422689.2	37	c.849T>A	CCDS46164.1																																																																																				0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		5	19	0	0	0	1	0	5	19				
CCDC57	284001	broad.mit.edu	37	17	80121119	80121119	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:80121119C>T	ENST00000389641.4	-	13	2033	c.1997G>A	c.(1996-1998)aGa>aAa	p.R666K	CCDC57_ENST00000392347.1_Missense_Mutation_p.R666K|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.R666K|RP11-1376P16.1_ENST00000582774.1_RNA			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	666										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGCTGCACTCTGTCCCCGAG	0.597																																						ENST00000389641.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1996-1998)aGa>aAa		coiled-coil domain containing 57							135.0	143.0	140.0					17																	80121119		2072	4194	6266	SO:0001583	missense	284001							g.chr17:80121119C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1997G>A	17.37:g.80121119C>T	ENSP00000374292:p.Arg666Lys					CCDC57_ENST00000392347.1_Missense_Mutation_p.R666K|CCDC57_ENST00000392343.3_Missense_Mutation_p.R666K|CCDC57_ENST00000327026.3_5'UTR	p.R666K			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	2033	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		666					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1997G>A		.	.	.	.	.	.	.	.	.	.	C	14.25	2.478098	0.44044	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.28454	2.82;2.82;1.61	2.86	2.86	0.33363	.	0.152318	0.30519	N	0.009453	T	0.39118	0.1066	L	0.40543	1.245	0.26215	N	0.979243	B;D	0.67145	0.041;0.996	B;D	0.72625	0.026;0.978	T	0.08638	-1.0712	10	0.23891	T	0.37	-8.6173	9.3821	0.38320	0.0:1.0:0.0:0.0	.	666;666	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	666;666;174;666	ENSP00000374292:R666K;ENSP00000376158:R666K;ENSP00000376154:R666K	ENSP00000315967:R174K	R	-	2	0	CCDC57	77714408	0.085000	0.21516	0.024000	0.17045	0.473000	0.32948	2.998000	0.49465	1.907000	0.55213	0.557000	0.71058	AGA		0.597	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		33	152	0	0	0	1	0	33	152				
ITGB8	3696	broad.mit.edu	37	7	20418789	20418789	+	Silent	SNP	C	C	T	rs200718910		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20418789C>T	ENST00000222573.4	+	4	1188	c.504C>T	c.(502-504)tcC>tcT	p.S168S	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Silent_p.S33S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	168	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.S168S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338													c|||	1	0.000199681	0.0	0.0	5008	,	,		12176	0.0		0.001	False		,,,				2504	0.0					ENST00000222573.3																			4	Substitution - coding silent(4)	p.S168S(4)	large_intestine(2)|lung(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-504)tcC>tcT		integrin, beta 8		T		0,4406		0,0,2203	81.0	87.0	85.0		504	-11.6	0.1	7		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB8	NM_002214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/770	20418789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418789C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.504C>T	7.37:g.20418789C>T						ITGB8_ENST00000537992.1_Silent_p.S33S	p.S168S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1188	+			168			VWFA.		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.504C>T	CCDS5370.1																																																																																				0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		7	22	0	0	0	1	0	7	22				
ATP8B1	5205	broad.mit.edu	37	18	55315748	55315748	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:55315748G>A	ENST00000283684.4	-	27	3727	c.3728C>T	c.(3727-3729)gCg>gTg	p.A1243V	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A1243V			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1243					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCTGTACTCCGCGGTGCCATC	0.617																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3727-3729)gCg>gTg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							28.0	30.0	30.0					18																	55315748		2198	4289	6487	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55315748G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3728C>T	18.37:g.55315748G>A	ENSP00000283684:p.Ala1243Val					ATP8B1_ENST00000283684.4_Missense_Mutation_p.A1243V|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	p.A1243V	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			28	3847	-		Colorectal(73;0.229)	1243					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.3728C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702679	0.48307	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.29142	1.58;1.58	5.38	5.38	0.77491	.	0.468521	0.23157	N	0.051295	T	0.35278	0.0926	L	0.51422	1.61	0.36696	D	0.879851	D	0.63046	0.992	P	0.45712	0.491	T	0.37641	-0.9697	10	0.41790	T	0.15	.	16.9038	0.86120	0.0:0.0:1.0:0.0	.	1243	O43520	AT8B1_HUMAN	V	1243	ENSP00000283684:A1243V;ENSP00000445359:A1243V	ENSP00000283684:A1243V	A	-	2	0	ATP8B1	53466746	1.000000	0.71417	0.094000	0.20943	0.266000	0.26442	3.924000	0.56476	2.515000	0.84797	0.491000	0.48974	GCG		0.617	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		13	47	0	0	0	1	0	13	47				
MFSD2A	84879	broad.mit.edu	37	1	40433346	40433346	+	Missense_Mutation	SNP	G	G	A	rs540449746		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40433346G>A	ENST00000372809.5	+	10	1240	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R353Q|MFSD2A_ENST00000420632.2_Missense_Mutation_p.R197Q	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	366					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTCTTGACCCGGTTTGGCAAG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20304	0.0		0.0	False		,,,				2504	0.001					ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1096-1098)cGg>cAg		major facilitator superfamily domain containing 2A							129.0	110.0	117.0					1																	40433346		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40433346G>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1097G>A	1.37:g.40433346G>A	ENSP00000361895:p.Arg366Gln					MFSD2A_ENST00000420632.2_Missense_Mutation_p.R197Q|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R353Q	p.R366Q	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			10	1240	+			366					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1097G>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265084	0.80358	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.85013	-1.93;-1.93;-1.93	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.055847	0.64402	D	0.000001	D	0.88328	0.6407	M	0.79926	2.475	0.58432	D	0.999998	P;P;P	0.43662	0.558;0.814;0.559	B;B;B	0.43754	0.148;0.43;0.213	D	0.89655	0.3872	10	0.66056	D	0.02	-25.2999	18.5783	0.91163	0.0:0.0:1.0:0.0	.	314;366;353	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	Q	353;197;366	ENSP00000361898:R353Q;ENSP00000391261:R197Q;ENSP00000361895:R366Q	ENSP00000361895:R366Q	R	+	2	0	MFSD2A	40205933	0.918000	0.31147	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.854000	0.98071	0.655000	0.94253	CGG		0.542	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		13	63	0	0	0	1	0	13	63				
TNFRSF11B	4982	broad.mit.edu	37	8	119936817	119936817	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:119936817T>C	ENST00000297350.4	-	5	1380	c.1002A>G	c.(1000-1002)atA>atG	p.I334M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	334	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGCCATTTTTTATTCGCCACA	0.453																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(1000-1002)atA>atG		tumor necrosis factor receptor superfamily, member 11b							233.0	206.0	215.0					8																	119936817		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936817T>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.1002A>G	8.37:g.119936817T>C	ENSP00000297350:p.Ile334Met						p.I334M	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1380	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		334			Death 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.1002A>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	T	5.682	0.310477	0.10733	.	.	ENSG00000164761	ENST00000297350	D	0.93133	-3.17	5.43	-10.9	0.00192	Death (1);	0.760060	0.12746	N	0.442675	D	0.83403	0.5247	L	0.46157	1.445	0.20196	N	0.999922	B	0.13145	0.007	B	0.15870	0.014	T	0.65977	-0.6037	9	.	.	.	-0.7717	2.2938	0.04145	0.2342:0.2946:0.3268:0.1444	.	334	O00300	TR11B_HUMAN	M	334	ENSP00000297350:I334M	.	I	-	3	3	TNFRSF11B	120005998	0.354000	0.24912	0.001000	0.08648	0.492000	0.33523	-0.476000	0.06591	-2.281000	0.00674	-0.490000	0.04691	ATA		0.453	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			19	115	0	0	0	1	0	19	115				
PCGF2	7703	broad.mit.edu	37	17	36895857	36895857	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36895857C>T	ENST00000580830.1	-	5	892	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAGCAGCGGCCGGGTTTTATG	0.612																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(190-192)cGg>cAg		polycomb group ring finger 2							144.0	116.0	125.0					17																	36895857		2203	4300	6503	SO:0001583	missense	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36895857C>T	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.191G>A	17.37:g.36895857C>T	ENSP00000461961:p.Arg64Gln					PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q	p.R64Q			P35227	PCGF2_HUMAN			5	892	-	Breast(7;9.07e-22)		64					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.191G>A	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603293	0.46423	.	.	ENSG00000056661	ENST00000360797	T	0.41758	0.99	4.56	4.56	0.56223	Zinc finger, RING/FYVE/PHD-type (1);	0.070142	0.64402	D	0.000017	T	0.30103	0.0754	L	0.31578	0.945	0.38636	D	0.9515	B	0.27882	0.192	B	0.21546	0.035	T	0.13872	-1.0493	10	0.20046	T	0.44	-9.2425	14.8624	0.70392	0.0:1.0:0.0:0.0	.	64	P35227	PCGF2_HUMAN	Q	64	ENSP00000354033:R64Q	ENSP00000354033:R64Q	R	-	2	0	PCGF2	34149383	0.030000	0.19436	0.495000	0.27527	0.907000	0.53573	2.863000	0.48396	2.364000	0.80123	0.491000	0.48974	CGG		0.612	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		13	84	0	0	0	1	0	13	84				
GMPR	2766	broad.mit.edu	37	6	16279025	16279025	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16279025C>T	ENST00000259727.4	+	6	672	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	186					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GTTCTGTGTGCACCACCCGCA	0.547																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(556-558)tgC>tgT		guanosine monophosphate reductase							81.0	70.0	74.0					6																	16279025		2203	4300	6503	SO:0001819	synonymous_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16279025C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.558C>T	6.37:g.16279025C>T							p.C186C	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			6	672	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	186					Q96HQ6	Silent	SNP	ENST00000259727.4	37	c.558C>T	CCDS4537.1																																																																																				0.547	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			5	51	0	0	0	1	0	5	51				
FBLN2	2199	broad.mit.edu	37	3	13649582	13649582	+	Missense_Mutation	SNP	G	G	A	rs201964777		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:13649582G>A	ENST00000295760.7	+	3	1396	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E443K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E469K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E443K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	443	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGACCTGATCGAGACTTGCTG	0.572																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1327-1329)Gag>Aag		fibulin 2							56.0	60.0	59.0					3																	13649582		2165	4264	6429	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13649582G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1327G>A	3.37:g.13649582G>A	ENSP00000295760:p.Glu443Lys					FBLN2_ENST00000492059.1_Missense_Mutation_p.E443K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E469K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E443K	p.E443K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		3	1446	+			443			N.|Subdomain NB (Cys-free).		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1327G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138162	0.37728	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80738	-1.41;-1.36;-1.32;-1.36	5.39	4.52	0.55395	.	0.133860	0.50627	D	0.000114	D	0.83394	0.5245	L	0.32530	0.975	0.46298	D	0.998974	B;D;P	0.89917	0.224;1.0;0.955	B;D;P	0.83275	0.028;0.996;0.574	D	0.83626	0.0142	10	0.51188	T	0.08	.	12.0743	0.53634	0.0809:0.0:0.9191:0.0	.	443;443;469	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	469;443;443;443	ENSP00000445705:E469K;ENSP00000384169:E443K;ENSP00000295760:E443K;ENSP00000420042:E443K	ENSP00000295760:E443K	E	+	1	0	FBLN2	13624583	1.000000	0.71417	0.998000	0.56505	0.476000	0.33039	6.420000	0.73349	1.282000	0.44496	-0.373000	0.07131	GAG		0.572	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		2	2	0	0	0	1	0	2	2				
PTPRU	10076	broad.mit.edu	37	1	29585178	29585178	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:29585178G>A	ENST00000345512.3	+	3	496	c.367G>A	c.(367-369)Gtt>Att	p.V123I	PTPRU_ENST00000323874.8_Missense_Mutation_p.V123I|PTPRU_ENST00000373779.3_Missense_Mutation_p.V123I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V123I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V123I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V123I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	123	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTACGTGCGCGTTAATGGGGG	0.627																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(367-369)Gtt>Att		protein tyrosine phosphatase, receptor type, U							86.0	95.0	92.0					1																	29585178		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585178G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.367G>A	1.37:g.29585178G>A	ENSP00000334941:p.Val123Ile					PTPRU_ENST00000428026.2_Missense_Mutation_p.V123I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V123I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V123I|PTPRU_ENST00000345512.3_Missense_Mutation_p.V123I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V123I	p.V123I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	3	496	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	123			MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.367G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789072	0.96945	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.64402	D	0.000002	T	0.13243	0.0321	M	0.73598	2.24	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	0.80764	0.989;0.989;0.989;0.994;0.994	T	0.00175	-1.1954	9	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	123;123;123;123;123	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	I	123	ENSP00000334941:V123I;ENSP00000362884:V123I;ENSP00000349333:V123I;ENSP00000314987:V123I;ENSP00000392332:V123I;ENSP00000432906:V123I	.	V	+	1	0	PTPRU	29457765	1.000000	0.71417	0.979000	0.43373	0.953000	0.61014	9.869000	0.99810	2.699000	0.92147	0.591000	0.81541	GTT		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			18	124	0	0	0	1	0	18	124				
TNR	7143	broad.mit.edu	37	1	175372583	175372583	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:175372583G>A	ENST00000367674.2	-	4	1377	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_ENST00000263525.2_Silent_p.S223S			Q92752	TENR_HUMAN	tenascin R	223	Cys-rich.|EGF-like 2.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S223S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTACTCGCTGTCACAGA	0.627																																						ENST00000367674.1																			1	Substitution - coding silent(1)	p.S223S(1)	ovary(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(667-669)agC>agT		tenascin R							108.0	107.0	107.0					1																	175372583		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372583G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.669C>T	1.37:g.175372583G>A						TNR_ENST00000263525.2_Silent_p.S223S	p.S223S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1377	-	Renal(580;0.146)		223			Cys-rich.|EGF-like 2.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.669C>T	CCDS1318.1																																																																																				0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		28	119	0	0	0	1	0	28	119				
C17orf74	201243	broad.mit.edu	37	17	7329864	7329864	+	Missense_Mutation	SNP	T	T	C	rs566851338	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7329864T>C	ENST00000333870.3	+	3	628	c.554T>C	c.(553-555)cTg>cCg	p.L185P	C17orf74_ENST00000574034.1_Silent_p.P72P|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	185						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GATTCCTACCTGGAGGAGGAG	0.587																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(553-555)cTg>cCg		chromosome 17 open reading frame 74							139.0	144.0	143.0					17																	7329864		2005	4157	6162	SO:0001583	missense	201243					integral to membrane		g.chr17:7329864T>C	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.554T>C	17.37:g.7329864T>C	ENSP00000328061:p.Leu185Pro					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.P72P	p.L185P	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	628	+		Prostate(122;0.157)	185						Missense_Mutation	SNP	ENST00000333870.3	37	c.554T>C	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074655	0.36566	.	.	ENSG00000184560	ENST00000333870	T	0.52754	0.65	3.79	0.143	0.14820	.	0.667620	0.11583	N	0.549520	T	0.30978	0.0782	L	0.27053	0.805	0.09310	N	1	B	0.17667	0.023	B	0.18263	0.021	T	0.21109	-1.0255	10	0.46703	T	0.11	-10.9008	6.1778	0.20453	0.0:0.3374:0.0:0.6626	.	185	Q0P670	CQ074_HUMAN	P	185	ENSP00000328061:L185P	ENSP00000328061:L185P	L	+	2	0	C17orf74	7270588	0.011000	0.17503	0.002000	0.10522	0.023000	0.10783	-0.026000	0.12392	-0.118000	0.11851	0.402000	0.26972	CTG		0.587	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		16	99	0	0	0	1	0	16	99				
LRRC41	10489	broad.mit.edu	37	1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	rs28363251	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46745250C>T	ENST00000343304.6	-	8	2342	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTGGGCTGGGCGCTTCTCAAA	0.557																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2056-2058)cGc>cAc		leucine rich repeat containing 41							98.0	113.0	108.0					1																	46745250		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745250C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2057G>A	1.37:g.46745250C>T	ENSP00000343298:p.Arg686His					LRRC41_ENST00000472710.1_5'UTR	p.R686H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			8	2342	-	Acute lymphoblastic leukemia(166;0.155)		686					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2057G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565488	0.45694	.	.	ENSG00000132128	ENST00000343304	T	0.53423	0.62	4.57	3.66	0.41972	.	0.257192	0.34460	N	0.003943	T	0.42291	0.1196	N	0.14661	0.345	0.28813	N	0.898108	B;D	0.69078	0.414;0.997	B;P	0.57204	0.021;0.815	T	0.30475	-0.9977	10	0.45353	T	0.12	-18.0221	10.0465	0.42190	0.0:0.7857:0.1371:0.0772	rs28363251;rs28363251	686;686	Q15345-3;Q15345	.;LRC41_HUMAN	H	686	ENSP00000343298:R686H	ENSP00000343298:R686H	R	-	2	0	LRRC41	46517837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.712000	0.47186	1.141000	0.42275	0.561000	0.74099	CGC		0.557	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		18	123	0	0	0	1	0	18	123				
MYO1F	4542	broad.mit.edu	37	19	8612974	8612974	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:8612974G>A	ENST00000338257.8	-	12	1482	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	AC092316.1_ENST00000598703.1_RNA|AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	405	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCATTGACGAAGTTGATGC	0.552																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1213-1215)ttC>ttT		myosin IF							140.0	136.0	137.0					19																	8612974		1916	4131	6047	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612974G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1215C>T	19.37:g.8612974G>A							p.F405F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1482	-			405			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1215C>T	CCDS42494.1																																																																																				0.552	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			26	161	0	0	0	1	0	26	161				
KLHL3	26249	broad.mit.edu	37	5	136969760	136969760	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:136969760G>A	ENST00000309755.4	-	12	1859	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	KLHL3_ENST00000506491.1_Silent_p.Y390Y|KLHL3_ENST00000508657.1_Silent_p.Y440Y|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Intron	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	472					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGTCCGCCACGTATATCCATT	0.537																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1318-1320)taC>taT		kelch-like family member 3							122.0	113.0	116.0					5																	136969760		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136969760G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1416C>T	5.37:g.136969760G>A						KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Silent_p.Y390Y|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Silent_p.Y472Y	p.Y440Y	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	12	2034	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	472					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1320C>T	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			13	83	0	0	0	1	0	13	83				
HIVEP3	59269	broad.mit.edu	37	1	42045766	42045766	+	Missense_Mutation	SNP	G	G	A	rs200451722		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42045766G>A	ENST00000372583.1	-	4	5588	c.4703C>T	c.(4702-4704)cCg>cTg	p.P1568L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1568L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1568L|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1568L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1568					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)				CAGAGAGCTCGGAGGTGCCAA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20304	0.001		0.0	False		,,,				2504	0.0					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.(4702-4704)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 3		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	117.0	113.0	114.0		4703,4703	4.5	1.0	1		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	98,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	1568/2406,1568/2407	42045766	2,13004	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045766G>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.4703C>T	1.37:g.42045766G>A	ENSP00000361664:p.Pro1568Leu					HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1568L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1568L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1568L	p.P1568L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5717	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1568					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4703C>T	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.67	1.416445	0.25552	0.0	2.33E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.29;3.26;3.26;3.29	5.37	4.46	0.54185	.	0.126173	0.36703	N	0.002454	T	0.08935	0.0221	L	0.51422	1.61	0.41741	D	0.989613	B;B	0.18968	0.032;0.019	B;B	0.15052	0.012;0.005	T	0.13926	-1.0491	10	0.16896	T	0.51	-21.0304	12.4293	0.55565	0.0782:0.0:0.9218:0.0	.	1568;1568	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1568	ENSP00000361665:P1568L;ENSP00000361664:P1568L;ENSP00000247584:P1568L;ENSP00000410828:P1568L	ENSP00000247584:P1568L	P	-	2	0	HIVEP3	41818353	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.295000	0.51794	1.503000	0.48686	0.655000	0.94253	CCG		0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		14	61	0	0	0	1	0	14	61				
CYB5R1	51706	broad.mit.edu	37	1	202932250	202932250	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:202932250T>G	ENST00000367249.4	-	8	763	c.689A>C	c.(688-690)cAg>cCg	p.Q230P	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	230					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	ATAGCGGGCCTGCAGTTCCTC	0.483																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(688-690)cAg>cCg		cytochrome b5 reductase 1							114.0	109.0	111.0					1																	202932250		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202932250T>G	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.689A>C	1.37:g.202932250T>G	ENSP00000356218:p.Gln230Pro					CYB5R1_ENST00000497655.1_5'UTR	p.Q230P	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		8	763	-			230					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.689A>C	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191518	0.78902	.	.	ENSG00000159348	ENST00000367249	D	0.87334	-2.24	5.98	4.86	0.63082	Oxidoreductase FAD/NAD(P)-binding (1);	0.259243	0.33346	N	0.005008	D	0.87985	0.6316	M	0.70903	2.155	0.45837	D	0.9987	P	0.38148	0.62	P	0.46885	0.53	D	0.88156	0.2854	10	0.72032	D	0.01	-2.0377	6.6998	0.23219	0.0:0.1643:0.0:0.8357	.	230	Q9UHQ9	NB5R1_HUMAN	P	230	ENSP00000356218:Q230P	ENSP00000356218:Q230P	Q	-	2	0	CYB5R1	201198873	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.904000	0.56325	2.288000	0.76882	0.482000	0.46254	CAG		0.483	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		9	55	0	0	0	1	0	9	55				
FOXC1	2296	broad.mit.edu	37	6	1612173	1612173	+	Missense_Mutation	SNP	C	C	T	rs542630440		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:1612173C>T	ENST00000380874.2	+	1	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	498					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCAGGCTACCCGGGCCAGCAG	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8263	0.0		0.0	False		,,,				2504	0.0				Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1492-1494)cCg>cTg		forkhead box C1							16.0	13.0	14.0					6																	1612173		2172	4267	6439	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding	g.chr6:1612173C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1493C>T	6.37:g.1612173C>T	ENSP00000370256:p.Pro498Leu						p.P498L	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1493	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	498					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1493C>T	CCDS4473.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978872|3.978872	0.74360|0.74360	.|.	.|.	ENSG00000054598|ENSG00000054598	ENST00000380874|ENST00000541209	D|.	0.89196|.	-2.48|.	3.26|3.26	3.26|3.26	0.37387|0.37387	.|.	0.276343|.	0.28296|.	U|.	0.015875|.	T|T	0.47248|0.47248	0.1435|0.1435	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.53619|.	0.961|.	B|.	0.40134|.	0.32|.	T|T	0.56360|0.56360	-0.7992|-0.7992	10|6	0.51188|0.66056	T|D	0.08|0.02	.|.	14.368|14.368	0.66820|0.66820	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	498|.	Q12948|.	FOXC1_HUMAN|.	L|W	498|193	ENSP00000370256:P498L|.	ENSP00000370256:P498L|ENSP00000438563:R193W	P|R	+|+	2|1	0|2	FOXC1|FOXC1	1557172|1557172	0.985000|0.985000	0.35326|0.35326	0.995000|0.995000	0.50966|0.50966	0.948000|0.948000	0.59901|0.59901	2.992000|2.992000	0.49417|0.49417	1.704000|1.704000	0.51252|0.51252	0.442000|0.442000	0.29010|0.29010	CCG|CGG		0.657	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			2	2	0	0	0	1	0	2	2				
SYNE1	23345	broad.mit.edu	37	6	152718084	152718084	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152718084C>T	ENST00000367255.5	-	50	7983	c.7382G>A	c.(7381-7383)aGc>aAc	p.S2461N	SYNE1_ENST00000423061.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2461N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2500N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAAGTTTGCTCTGCCCATC	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(7381-7383)aGc>aAc		spectrin repeat containing, nuclear envelope 1							159.0	137.0	145.0					6																	152718084		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152718084C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7382G>A	6.37:g.152718084C>T	ENSP00000356224:p.Ser2461Asn	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.S2461N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2500N	p.S2461N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	50	7983	-		Ovarian(120;0.0955)	2461					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7382G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786645	0.31593	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55234	0.62;0.61;0.53;0.61;0.67	6.07	4.08	0.47627	.	0.417919	0.24710	N	0.036226	T	0.15955	0.0384	N	0.12746	0.255	0.80722	D	1	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.11329	0.002;0.003;0.003;0.006	T	0.07139	-1.0788	10	0.22109	T	0.4	.	10.019	0.42031	0.0:0.7663:0.0:0.2337	.	2444;2461;2461;2468	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2461;2468;2461;2468;2500	ENSP00000356224:S2461N;ENSP00000396024:S2468N;ENSP00000265368:S2461N;ENSP00000390975:S2468N;ENSP00000341887:S2500N	ENSP00000265368:S2461N	S	-	2	0	SYNE1	152759777	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.574000	0.36482	1.572000	0.49736	0.655000	0.94253	AGC		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	45	0	0	0	1	0	4	45				
FAM65C	140876	broad.mit.edu	37	20	49236609	49236609	+	Silent	SNP	G	G	A	rs139735596	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:49236609G>A	ENST00000327979.2	-	3	582	c.171C>T	c.(169-171)taC>taT	p.Y57Y	FAM65C_ENST00000045083.2_Silent_p.Y57Y|FAM65C_ENST00000535356.1_Silent_p.Y61Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	57										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGCGTGCCGTACATCTTGG	0.547													G|||	4	0.000798722	0.0023	0.0	5008	,	,		20397	0.0		0.0	False		,,,				2504	0.001					ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(169-171)taC>taT		family with sequence similarity 65, member C		G		15,4391	21.2+/-45.6	0,15,2188	109.0	98.0	102.0		171	-2.3	0.5	20	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM65C	NM_080829.2		0,16,6487	AA,AG,GG		0.0116,0.3404,0.123		57/947	49236609	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49236609G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.171C>T	20.37:g.49236609G>A						FAM65C_ENST00000535356.1_Silent_p.Y61Y|FAM65C_ENST00000045083.2_Silent_p.Y57Y	p.Y57Y			Q96MK2	FA65C_HUMAN			3	582	-			57					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.171C>T	CCDS13431.2																																																																																				0.547	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			10	76	0	0	0	1	0	10	76				
LLGL2	3993	broad.mit.edu	37	17	73559543	73559543	+	Splice_Site	SNP	C	C	T	rs141041567	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73559543C>T	ENST00000392550.3	+	8	942	c.825C>T	c.(823-825)taC>taT	p.Y275Y	LLGL2_ENST00000167462.5_Splice_Site_p.Y275Y|LLGL2_ENST00000578363.1_Splice_Site_p.Y275Y|LLGL2_ENST00000577200.1_Splice_Site_p.Y275Y|LLGL2_ENST00000375227.4_Splice_Site_p.Y275Y	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	275					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)			TCGTGCCTTACGGTCAGTGTT	0.647																																						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.e8+1		lethal giant larvae homolog 2 (Drosophila)		C	,,	0,4404		0,0,2202	36.0	36.0	36.0		825,825,825	-2.5	1.0	17	dbSNP_134	36	4,8592	3.7+/-12.6	0,4,4294	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	LLGL2	NM_001015002.1,NM_001031803.1,NM_004524.2	,,	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	,,	275/357,275/1021,275/1016	73559543	4,12996	2202	4298	6500	SO:0001630	splice_region_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73559543C>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.826+1C>T	17.37:g.73559543C>T						LLGL2_ENST00000375227.4_Splice_Site_p.Y275_splice|LLGL2_ENST00000578363.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000577200.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000167462.5_Splice_Site_p.Y275_splice	p.Y275_splice	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)		8	942	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		275					Q14521|Q9BR62	Splice_Site	SNP	ENST00000392550.3	37	c.826_splice	CCDS32733.1																																																																																				0.647	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	Silent	10	44	0	0	0	1	0	10	44				
ASMTL	8623	broad.mit.edu	37	X	1561136	1561136	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1561136C>T	ENST00000381317.3	-	2	200	c.168G>A	c.(166-168)ggG>ggA	p.G56G	ASMTL_ENST00000416733.2_Missense_Mutation_p.G2D|ASMTL_ENST00000534940.1_5'UTR|ASMTL_ENST00000381333.4_Silent_p.G56G	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	56	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CCATGGCGTACCCATACGGAG	0.567																																						ENST00000416733.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(4-6)gGt>gAt		acetylserotonin O-methyltransferase-like							123.0	129.0	127.0					X																	1561136		1901	4100	6001	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1561136C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.168G>A	X.37:g.1561136C>T						ASMTL_ENST00000381333.4_Silent_p.G56G|ASMTL_ENST00000534940.1_5'UTR|ASMTL_ENST00000381317.3_Silent_p.G56G	p.G2D			O95671	ASML_HUMAN			2	202	-		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)	0					B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.5G>A	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	g	5.172	0.217310	0.09810	.	.	ENSG00000169093	ENST00000416733	T	0.02103	4.45	2.24	-4.47	0.03525	.	0.136004	0.46758	U	0.000262	T	0.01592	0.0051	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.43572	-0.9383	9	0.87932	D	0	.	1.8269	0.03122	0.1144:0.2056:0.2251:0.455	.	2	E7ER97	.	D	2	ENSP00000410578:G2D	ENSP00000410578:G2D	G	-	2	0	ASMTL	1521136	0.131000	0.22433	0.000000	0.03702	0.204000	0.24138	-1.040000	0.03546	-3.126000	0.00237	-0.499000	0.04595	GGT		0.567	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		16	90	0	0	0	1	0	16	90				
B4GALT1	2683	broad.mit.edu	37	9	33135375	33135375	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:33135375C>T	ENST00000379731.4	-	2	646	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	B4GALT1_ENST00000535206.1_Missense_Mutation_p.V154M	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	154					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTTTGCCACGAGCTCCAGG	0.587																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(460-462)Gtg>Atg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						86.0	72.0	77.0					9																	33135375		2203	4300	6503	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135375C>T	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.460G>A	9.37:g.33135375C>T	ENSP00000369055:p.Val154Met					B4GALT1_ENST00000535206.1_Missense_Mutation_p.V154M	p.V154M	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	646	-			154					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.460G>A	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578702	0.46006	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.23348	1.91;1.91	4.72	0.46	0.16684	.	0.395914	0.27451	N	0.019312	T	0.37919	0.1021	M	0.83483	2.645	0.50467	D	0.999876	D	0.67145	0.996	P	0.58210	0.835	T	0.24368	-1.0162	10	0.59425	D	0.04	-18.3825	1.2295	0.01941	0.2123:0.2788:0.34:0.1688	.	154	P15291	B4GT1_HUMAN	M	154;154;111	ENSP00000440341:V154M;ENSP00000369055:V154M	ENSP00000369055:V154M	V	-	1	0	B4GALT1	33125375	0.266000	0.24112	0.418000	0.26571	0.487000	0.33371	0.748000	0.26305	0.215000	0.20761	0.655000	0.94253	GTG		0.587	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		4	24	0	0	0	1	0	4	24				
PPP1R13L	10848	broad.mit.edu	37	19	45888875	45888875	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45888875G>A	ENST00000418234.2	-	11	2271	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	PPP1R13L_ENST00000360957.5_Silent_p.F731F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	731					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)		CGCACTTCTCGAAGGCGGTGG	0.677																																					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.(2191-2193)ttC>ttT		protein phosphatase 1, regulatory subunit 13 like							51.0	42.0	45.0					19																	45888875		2200	4299	6499	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888875G>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.2193C>T	19.37:g.45888875G>A						PPP1R13L_ENST00000360957.5_Silent_p.F731F	p.F731F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2271	-		all_neural(266;0.224)|Ovarian(192;0.231)	731					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2193C>T	CCDS33050.1																																																																																				0.677	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		7	36	0	0	0	1	0	7	36				
XYLT1	64131	broad.mit.edu	37	16	17221564	17221564	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:17221564C>T	ENST00000261381.6	-	10	2266	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	728					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGGGCTTGCGATCTTGAAG	0.488																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2182-2184)Gca>Aca		xylosyltransferase I							169.0	169.0	169.0					16																	17221564		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221564C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2182G>A	16.37:g.17221564C>T	ENSP00000261381:p.Ala728Thr						p.A728T	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			10	2266	-			728					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2182G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190068	0.58017	.	.	ENSG00000103489	ENST00000261381	T	0.45276	0.9	5.76	5.76	0.90799	.	0.045581	0.85682	D	0.000000	T	0.30572	0.0769	N	0.19112	0.55	0.58432	D	0.999991	D	0.53745	0.962	B	0.40199	0.322	T	0.04140	-1.0974	10	0.25106	T	0.35	-18.9337	18.9641	0.92689	0.0:1.0:0.0:0.0	.	728	Q86Y38	XYLT1_HUMAN	T	728	ENSP00000261381:A728T	ENSP00000261381:A728T	A	-	1	0	XYLT1	17129065	1.000000	0.71417	0.862000	0.33874	0.986000	0.74619	4.837000	0.62796	2.713000	0.92767	0.655000	0.94253	GCA		0.488	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		26	133	0	0	0	1	0	26	133				
CSMD2	114784	broad.mit.edu	37	1	33992853	33992853	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:33992853G>A	ENST00000373381.4	-	65	10353	c.10177C>T	c.(10177-10179)Cgg>Tgg	p.R3393W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTGGGCCGGACCTCTGCT	0.517																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10177-10179)Cgg>Tgg		CUB and Sushi multiple domains 2							77.0	75.0	76.0					1																	33992853		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33992853G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10177C>T	1.37:g.33992853G>A	ENSP00000362479:p.Arg3393Trp						p.R3393W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			65	10353	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3249					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10177C>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.346088	0.82022	.	.	ENSG00000121904	ENST00000373381	T	0.25414	1.8	5.41	5.41	0.78517	Complement control module (1);	0.372017	0.27223	N	0.020357	T	0.33789	0.0875	L	0.44542	1.39	0.80722	D	1	P;D	0.58620	0.901;0.983	B;P	0.50934	0.072;0.654	T	0.04294	-1.0962	10	0.66056	D	0.02	.	15.9258	0.79615	0.0:0.0:1.0:0.0	.	3249;3393	Q7Z408;E7EUA6	CSMD2_HUMAN;.	W	3393	ENSP00000362479:R3393W	ENSP00000241312:R3249W	R	-	1	2	CSMD2	33765440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.284000	0.58983	2.562000	0.86427	0.655000	0.94253	CGG		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		9	38	0	0	0	1	0	9	38				
CYTH2	9266	broad.mit.edu	37	19	48977182	48977182	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48977182G>A	ENST00000452733.2	+	6	931	c.455G>A	c.(454-456)cGc>cAc	p.R152H	CYTH2_ENST00000427476.1_Missense_Mutation_p.R152H			Q99418	CYH2_HUMAN	cytohesin 2	152	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGAGCTTTCGCCTACCCGGA	0.612																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(454-456)cGc>cAc		cytohesin 2							46.0	45.0	45.0					19																	48977182		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48977182G>A	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.455G>A	19.37:g.48977182G>A	ENSP00000408236:p.Arg152His					CYTH2_ENST00000452733.2_Missense_Mutation_p.R152H	p.R152H	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			6	755	+			152			SEC7.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.455G>A	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982006	0.93044	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.58210	0.35;0.35;0.35	3.92	3.92	0.45320	.	0.058137	0.64402	D	0.000001	T	0.73976	0.3656	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.80004	-0.1564	10	0.87932	D	0	.	13.8297	0.63373	0.0:0.0:1.0:0.0	.	152	Q99418-2	.	H	152;152;174	ENSP00000408236:R152H;ENSP00000391648:R152H;ENSP00000314566:R174H	ENSP00000314566:R174H	R	+	2	0	CYTH2	53668994	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.648000	0.98483	2.179000	0.69175	0.561000	0.74099	CGC		0.612	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		9	33	0	0	0	1	0	9	33				
TAP1	6890	broad.mit.edu	37	6	32814903	32814903	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:32814903G>A	ENST00000354258.4	-	10	2323	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	PSMB8_ENST00000374881.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.P460L|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	721	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AAGTACACACGGTTTCCGGAT	0.557																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(2161-2163)cCg>cTg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							147.0	133.0	138.0					6																	32814903		1511	2709	4220	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32814903G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2162C>T	6.37:g.32814903G>A	ENSP00000346206:p.Pro721Leu					PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P460L	p.P721L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			10	2323	-			721			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.2162C>T	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379034	0.82682	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.94897	-3.55;-3.55	5.16	5.16	0.70880	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.44902	D	0.000414	D	0.98112	0.9377	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	-2.4396	16.1585	0.81681	0.0:0.0:1.0:0.0	.	721	Q03518	TAP1_HUMAN	L	721;460	ENSP00000346206:P721L;ENSP00000401919:P460L	ENSP00000346206:P721L	P	-	2	0	TAP1	32922881	1.000000	0.71417	0.627000	0.29227	0.677000	0.39632	8.643000	0.91040	2.411000	0.81874	0.643000	0.83706	CCG		0.557	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		16	78	0	0	0	1	0	16	78				
ANAPC1	64682	broad.mit.edu	37	2	112604725	112604725	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:112604725G>A	ENST00000341068.3	-	16	2614	c.1842C>T	c.(1840-1842)acC>acT	p.T614T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAACTCAGAGGTGGCAATTT	0.328																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1840-1842)acC>acT		anaphase promoting complex subunit 1							71.0	67.0	68.0					2																	112604725		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112604725G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1842C>T	2.37:g.112604725G>A							p.T614T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			16	2614	-			614					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1842C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877581	0.17395	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.58	0.575	0.17374	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	-15.0939	1.5443	0.02562	0.3089:0.1318:0.4242:0.1351	.	.	.	.	F	149	.	.	L	-	1	0	ANAPC1	112321196	0.938000	0.31826	0.997000	0.53966	0.936000	0.57629	0.011000	0.13264	-0.114000	0.11936	0.460000	0.39030	CTC		0.328	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		11	23	0	0	0	1	0	11	23				
SV2B	9899	broad.mit.edu	37	15	91769602	91769602	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91769602G>A	ENST00000394232.1	+	2	579	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.E37K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	37					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGATGTCACCGAAGGCCATGA	0.537																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(109-111)Gaa>Aaa		synaptic vesicle glycoprotein 2B							142.0	116.0	125.0					15																	91769602		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769602G>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.109G>A	15.37:g.91769602G>A	ENSP00000377779:p.Glu37Lys					SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.E37K|SV2B_ENST00000545111.2_Intron	p.E37K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	579	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		37					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.109G>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106752	0.94292	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.34667	1.35;1.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.62497	-0.6842	10	0.72032	D	0.01	-22.8182	18.4162	0.90571	0.0:0.0:1.0:0.0	.	37	Q7L1I2	SV2B_HUMAN	K	37	ENSP00000377779:E37K;ENSP00000332818:E37K	ENSP00000332818:E37K	E	+	1	0	SV2B	89570606	1.000000	0.71417	0.986000	0.45419	0.717000	0.41224	9.594000	0.98254	2.703000	0.92315	0.563000	0.77884	GAA		0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		12	58	0	0	0	1	0	12	58				
NUDT14	256281	broad.mit.edu	37	14	105639420	105639420	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:105639420C>T	ENST00000392568.2	-	5	700	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	203	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		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)		AAGATGACGCCGAGGGTCTTG	0.627										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(607-609)Ggc>Agc		nudix (nucleoside diphosphate linked moiety X)-type motif 14							78.0	79.0	79.0					14																	105639420		2202	4293	6495	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105639420C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.607G>A	14.37:g.105639420C>T	ENSP00000376349:p.Gly203Ser	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	p.G203S	NM_177533.4	NP_803877.2	O95848	NUD14_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)	5	700	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	203			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.607G>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	4.989	0.183758	0.09495	.	.	ENSG00000183828	ENST00000392568	T	0.39787	1.06	3.32	2.42	0.29668	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	L	0.41236	1.265	0.58432	D	0.999999	D	0.55172	0.97	P	0.44447	0.45	T	0.15093	-1.0449	10	0.09084	T	0.74	-14.3747	6.3717	0.21485	0.0:0.8646:0.0:0.1354	.	203	O95848	NUD14_HUMAN	S	203	ENSP00000376349:G203S	ENSP00000376349:G203S	G	-	1	0	NUDT14	104710465	0.226000	0.23696	0.023000	0.16930	0.179000	0.23085	1.183000	0.32041	0.972000	0.38314	0.462000	0.41574	GGC		0.627	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		5	54	0	0	0	1	0	5	54				
DUSP13	51207	broad.mit.edu	37	10	76861673	76861673	+	5'Flank	SNP	G	G	A	rs536279604	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:76861673G>A	ENST00000472493.2	-	0	0				DUSP13_ENST00000478873.2_5'Flank|DUSP13_ENST00000491677.2_Missense_Mutation_p.T113M|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_5'Flank|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.T77M	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13						meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGGCAGTTCGTGCTGCTGGC	0.522													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18061	0.0		0.0	False		,,,				2504	0.0				NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(337-339)aCg>aTg		dual specificity phosphatase 13							103.0	100.0	101.0					10																	76861673		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76861673G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516		10.37:g.76861673G>A	Exception_encountered					DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.T77M|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	p.T113M	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			5	880	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		0			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.338C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396774	0.42512	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.05786	3.39	4.14	3.22	0.36961	.	1.356430	0.05059	N	0.479505	T	0.08492	0.0211	N	0.24115	0.695	0.09310	N	0.999994	D	0.54047	0.964	P	0.47744	0.556	T	0.39078	-0.9631	10	0.48119	T	0.1	-6.2409	9.2184	0.37362	0.0:0.0:0.7704:0.2296	.	113	F2Z2C4	.	M	113;77	ENSP00000436312:T113M	ENSP00000361783:T77M	T	-	2	0	DUSP13	76531679	0.022000	0.18835	0.009000	0.14445	0.126000	0.20510	0.969000	0.29370	1.301000	0.44836	0.655000	0.94253	ACG		0.522	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			22	73	0	0	0	1	0	22	73				
VPS51	738	broad.mit.edu	37	11	64877312	64877312	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64877312G>A	ENST00000279281.3	+	7	1887	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	599					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GGAGACTCGCGACTGGCTCAG	0.657																																						ENST00000279281.3																			0											c.(1795-1797)Gac>Aac		vacuolar protein sorting 51 homolog (S. cerevisiae)							36.0	37.0	37.0					11																	64877312		2200	4297	6497	SO:0001583	missense	738							g.chr11:64877312G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1795G>A	11.37:g.64877312G>A	ENSP00000279281:p.Asp599Asn					VPS51_ENST00000527646.1_3'UTR	p.D599N	NM_013265.2	NP_037397.2					7	1887	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1795G>A	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314652	0.95655	.	.	ENSG00000149823	ENST00000279281	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71906	-0.4451	9	0.38643	T	0.18	-8.5288	15.1714	0.72875	0.0:0.0:1.0:0.0	.	599	Q9UID3	FFR_HUMAN	N	599	.	ENSP00000279281:D599N	D	+	1	0	C11orf2	64633888	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.278000	0.95766	2.438000	0.82558	0.484000	0.47621	GAC		0.657	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		4	15	0	0	0	1	0	4	15				
IRAK2	3656	broad.mit.edu	37	3	10255194	10255194	+	Silent	SNP	C	C	T	rs199981706		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:10255194C>T	ENST00000256458.4	+	6	840	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|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 NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGGATCAATCGAAAGATTCT	0.463													c|||	1	0.000199681	0.0	0.0	5008	,	,		17917	0.001		0.0	False		,,,				2504	0.0					ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(748-750)atC>atT		interleukin-1 receptor-associated kinase 2							126.0	121.0	123.0					3																	10255194		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10255194C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.750C>T	3.37:g.10255194C>T							p.I250I	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			6	840	+			250			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.750C>T	CCDS33697.1																																																																																				0.463	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			7	52	0	0	0	1	0	7	52				
MYOM1	8736	broad.mit.edu	37	18	3215102	3215102	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3215102G>A	ENST00000356443.4	-	2	453	c.120C>T	c.(118-120)acC>acT	p.T40T	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Silent_p.T40T|MYOM1_ENST00000261606.7_Silent_p.T40T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	40					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGAGCCCTGGGTGTAGACGG	0.677																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(118-120)acC>acT		myomesin 1							37.0	45.0	43.0					18																	3215102		2052	4202	6254	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215102G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.120C>T	18.37:g.3215102G>A						MYOM1_ENST00000261606.7_Silent_p.T40T|MYOM1_ENST00000356443.4_Silent_p.T40T|RP13-270P17.2_ENST00000580139.1_RNA	p.T40T			P52179	MYOM1_HUMAN			2	453	-			40					Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.120C>T	CCDS45824.1																																																																																				0.677	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		14	40	0	0	0	1	0	14	40				
GPATCH3	63906	broad.mit.edu	37	1	27216198	27216198	+	IGR	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:27216198T>C	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Silent_p.Q130Q|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								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)		ACTGCGCCATTTGGGAGAAGA	0.647																																						ENST00000374135.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(388-390)caA>caG		GPN-loop GTPase 2							60.0	65.0	63.0					1																	27216198		2203	4300	6503	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27216198T>C	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		1.37:g.27216198T>C							p.Q130Q	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN			1	590	-			130					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.390A>G	CCDS290.1																																																																																				0.647	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		16	78	0	0	0	1	0	16	78				
RGS16	6004	broad.mit.edu	37	1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A	rs376142721		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:182569617G>A	ENST00000367558.5	-	5	567	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	140	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTTCATCCTCGTCAGCTCGTG	0.592																																						ENST00000367558.5																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(418-420)aCg>aTg		regulator of G-protein signaling 16		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	125.0	98.0	107.0		419	5.4	1.0	1		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	RGS16	NM_002928.3	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	140/203	182569617	3,13003	2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182569617G>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.419C>T	1.37:g.182569617G>A	ENSP00000356529:p.Thr140Met						p.T140M	NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN			5	567	-			140			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.419C>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007792	0.54361	2.27E-4	2.33E-4	ENSG00000143333	ENST00000367558	T	0.02032	4.49	5.38	5.38	0.77491	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.142257	0.64402	D	0.000006	T	0.13586	0.0329	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00027	-1.2302	10	0.87932	D	0	.	12.1463	0.54026	0.0795:0.0:0.9205:0.0	.	140	O15492	RGS16_HUMAN	M	140	ENSP00000356529:T140M	ENSP00000356529:T140M	T	-	2	0	RGS16	180836240	1.000000	0.71417	0.958000	0.39756	0.030000	0.12068	7.720000	0.84759	2.525000	0.85131	0.555000	0.69702	ACG		0.592	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		12	62	0	0	0	1	0	12	62				
AIFM3	150209	broad.mit.edu	37	22	21330519	21330519	+	Missense_Mutation	SNP	G	G	A	rs371705249		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:21330519G>A	ENST00000399167.2	+	10	1063	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.V275M|AIFM3_ENST00000335375.5_Missense_Mutation_p.V263M|AIFM3_ENST00000333607.6_Missense_Mutation_p.V275M|AIFM3_ENST00000405089.1_Missense_Mutation_p.V281M|AIFM3_ENST00000440238.2_Missense_Mutation_p.V275M	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	275					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGTGGACGTGAGAACTAA	0.607																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(823-825)Gtg>Atg		apoptosis-inducing factor, mitochondrion-associated, 3		G	MET/VAL,MET/VAL,MET/VAL	1,4403	2.1+/-5.4	0,1,2201	99.0	79.0	86.0		823,841,823	4.2	1.0	22		86	0,8600		0,0,4300	no	missense,missense,missense	AIFM3	NM_001018060.2,NM_001146288.1,NM_144704.2	21,21,21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	275/599,281/605,275/606	21330519	1,13003	2202	4300	6502	SO:0001583	missense	150209							g.chr22:21330519G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.823G>A	22.37:g.21330519G>A	ENSP00000382120:p.Val275Met					AIFM3_ENST00000440238.2_Missense_Mutation_p.V275M|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Missense_Mutation_p.V281M|AIFM3_ENST00000399163.2_Missense_Mutation_p.V275M|AIFM3_ENST00000335375.5_Missense_Mutation_p.V263M|AIFM3_ENST00000333607.6_Missense_Mutation_p.V275M	p.V275M	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		10	1063	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.823G>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281736	0.59758	2.27E-4	0.0	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.15	4.15	0.48705	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.307999	0.32868	N	0.005560	T	0.54498	0.1862	M	0.70787	2.145	0.39915	D	0.97408	D;D;P;P;P	0.65815	0.995;0.985;0.934;0.934;0.947	P;P;P;P;P	0.54372	0.695;0.75;0.541;0.541;0.671	T	0.55623	-0.8112	10	0.33940	T	0.23	-1.4157	7.9975	0.30277	0.1101:0.0:0.8899:0.0	.	263;263;281;275;275	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	M	275;275;281;263;275;275	ENSP00000382120:V275M;ENSP00000382116:V275M;ENSP00000385800:V281M;ENSP00000335369:V263M;ENSP00000390798:V275M;ENSP00000327671:V275M	ENSP00000327671:V275M	V	+	1	0	AIFM3	19660519	0.995000	0.38212	0.994000	0.49952	0.882000	0.50991	2.167000	0.42415	2.317000	0.78254	0.561000	0.74099	GTG		0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		3	17	0	0	0	1	0	3	17				
GFOD2	81577	broad.mit.edu	37	16	67709621	67709621	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67709621C>T	ENST00000268797.7	-	3	940	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	199					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTGAGCAGCCCGTGCACCTTC	0.617																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(595-597)Ggg>Agg		glucose-fructose oxidoreductase domain containing 2							62.0	59.0	60.0					16																	67709621		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709621C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.595G>A	16.37:g.67709621C>T	ENSP00000268797:p.Gly199Arg					GFOD2_ENST00000602377.1_5'UTR	p.G199R	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	940	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	199					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.595G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622306	0.87460	.	.	ENSG00000141098	ENST00000268797	T	0.50001	0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76955	-0.2767	10	0.87932	D	0	-35.7106	18.8749	0.92331	0.0:1.0:0.0:0.0	.	199	Q3B7J2	GFOD2_HUMAN	R	199	ENSP00000268797:G199R	ENSP00000268797:G199R	G	-	1	0	GFOD2	66267122	1.000000	0.71417	0.968000	0.41197	0.658000	0.38924	7.792000	0.85828	2.625000	0.88918	0.557000	0.71058	GGG		0.617	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		10	48	0	0	0	1	0	10	48				
D2HGDH	728294	broad.mit.edu	37	2	242707232	242707232	+	Missense_Mutation	SNP	G	G	A	rs539220817		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:242707232G>A	ENST00000321264.4	+	10	1623	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V338I	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	472					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCAGGGCAGCGTCAGCGCGGA	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11934	0.0		0.0	False		,,,				2504	0.0					ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1414-1416)Gtc>Atc		D-2-hydroxyglutarate dehydrogenase							33.0	33.0	33.0					2																	242707232		2203	4294	6497	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707232G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1414G>A	2.37:g.242707232G>A	ENSP00000315351:p.Val472Ile					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V338I	p.V472I	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1623	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	472					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1414G>A	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202850	0.01581	.	.	ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211	D;D	0.81821	-1.54;-1.54	4.76	1.91	0.25777	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.181103	0.46145	D	0.000310	T	0.51041	0.1651	N	0.02708	-0.52	0.80722	D	1	B	0.18461	0.028	B	0.28465	0.09	T	0.48768	-0.9006	10	0.02654	T	1	0.0462	5.8054	0.18438	0.492:0.0:0.508:0.0	.	472	Q8N465	D2HDH_HUMAN	I	472;338;92	ENSP00000315351:V472I;ENSP00000384723:V338I	ENSP00000315351:V472I	V	+	1	0	D2HGDH	242355905	0.708000	0.27876	0.177000	0.23020	0.074000	0.17049	1.263000	0.33004	0.993000	0.38866	0.556000	0.70494	GTC		0.682	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		4	25	0	0	0	1	0	4	25				
TEX14	56155	broad.mit.edu	37	17	56688555	56688555	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:56688555G>A	ENST00000240361.8	-	10	1254	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	TEX14_ENST00000389934.3_Missense_Mutation_p.A384V|TEX14_ENST00000349033.5_Missense_Mutation_p.A384V			Q8IWB6	TEX14_HUMAN	testis expressed 14	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCAGCCTCGCTTCACCTGG	0.522																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1150-1152)gCg>gTg		testis expressed 14							179.0	154.0	163.0					17																	56688555		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688555G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1169C>T	17.37:g.56688555G>A	ENSP00000240361:p.Ala390Val					TEX14_ENST00000349033.5_Missense_Mutation_p.A384V|TEX14_ENST00000240361.8_Missense_Mutation_p.A390V	p.A384V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			10	1268	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		390			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1151C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397098	0.83120	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.78246	-1.16;-1.16;-1.16	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088293	0.49305	D	0.000150	T	0.78811	0.4342	L	0.56340	1.77	0.44603	D	0.997577	P;P;P	0.40834	0.5;0.73;0.542	B;P;B	0.44772	0.358;0.46;0.244	T	0.78386	-0.2224	10	0.40728	T	0.16	-3.3866	17.6112	0.88054	0.0:0.0:1.0:0.0	.	390;384;384	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	390;384;384	ENSP00000240361:A390V;ENSP00000374584:A384V;ENSP00000268910:A384V	ENSP00000240361:A390V	A	-	2	0	TEX14	54043554	1.000000	0.71417	0.962000	0.40283	0.965000	0.64279	3.938000	0.56583	2.514000	0.84764	0.462000	0.41574	GCG		0.522	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			23	116	0	0	0	1	0	23	116				
RP1L1	94137	broad.mit.edu	37	8	10467947	10467947	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:10467947C>T	ENST00000382483.3	-	4	3884	c.3661G>A	c.(3661-3663)Ggc>Agc	p.G1221S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1221					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)		ACCAGGGTGCCGTCCATGGCA	0.582																																						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.(3661-3663)Ggc>Agc		retinitis pigmentosa 1-like 1							36.0	40.0	38.0					8																	10467947		2039	4182	6221	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467947C>T	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.3661G>A	8.37:g.10467947C>T	ENSP00000371923:p.Gly1221Ser						p.G1221S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3884	-			1221					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3661G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	2.540	-0.306409	0.05458	.	.	ENSG00000183638	ENST00000382483	T	0.03801	3.8	4.68	-9.36	0.00629	.	1.247570	0.06092	N	0.663797	T	0.02380	0.0073	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.39187	-0.9626	10	0.08599	T	0.76	0.3829	9.976	0.41783	0.1276:0.4819:0.0:0.3904	.	1221	A6NKC6	.	S	1221	ENSP00000371923:G1221S	ENSP00000371923:G1221S	G	-	1	0	RP1L1	10505357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.109000	0.10840	-3.706000	0.00118	-3.954000	0.00015	GGC		0.582	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	28	0	0	0	1	0	4	28				
CCDC88B	283234	broad.mit.edu	37	11	64112271	64112271	+	Missense_Mutation	SNP	G	G	A	rs200509973		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64112271G>A	ENST00000356786.5	+	14	2302	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	753						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCAGGCCCGCAAGCTGGAG	0.682																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2257-2259)cGc>cAc		coiled-coil domain containing 88B							30.0	37.0	34.0					11																	64112271		2199	4296	6495	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112271G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2258G>A	11.37:g.64112271G>A	ENSP00000349238:p.Arg753His					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.R753H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2302	+			753					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.2258G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	13.29	2.194350	0.38806	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.29917	1.55	3.47	1.47	0.22746	.	.	.	.	.	T	0.28067	0.0692	L	0.43152	1.355	0.80722	D	1	D;D;D	0.60160	0.987;0.98;0.987	P;P;P	0.48677	0.499;0.586;0.499	T	0.03354	-1.1045	9	0.44086	T	0.13	.	5.9027	0.18976	0.3935:0.0:0.6065:0.0	.	753;402;753	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	H	753	ENSP00000349238:R753H	ENSP00000349238:R753H	R	+	2	0	CCDC88B	63868847	0.020000	0.18652	0.973000	0.42090	0.163000	0.22366	1.215000	0.32431	0.225000	0.20959	0.450000	0.29827	CGC		0.682	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	18	0	0	0	1	0	4	18				
TRIM16L	147166	broad.mit.edu	37	17	18638608	18638608	+	Silent	SNP	C	C	T	rs375964173		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18638608C>T	ENST00000449552.2	+	7	2366	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000395672.2_Silent_p.G294G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTTCTATGGCGTAGAGTATG	0.512																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(880-882)ggC>ggT		tripartite motif containing 16-like							90.0	88.0	89.0					17																	18638608		2203	4300	6503	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638608C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.882C>T	17.37:g.18638608C>T						TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000395672.2_Silent_p.G294G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G	p.G294G			Q309B1	TR16L_HUMAN			7	2366	+			294			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.882C>T	CCDS32588.1																																																																																				0.512	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		12	43	0	0	0	1	0	12	43				
DLGAP1	9229	broad.mit.edu	37	18	3879678	3879678	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3879678G>A	ENST00000315677.3	-	4	986	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R131C|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R131C|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R131C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	131					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTGTCGCTGCGGTGCTCCACG	0.677																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(391-393)Cgc>Tgc		discs, large (Drosophila) homolog-associated protein 1							60.0	67.0	65.0					18																	3879678		2203	4298	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879678G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.391C>T	18.37:g.3879678G>A	ENSP00000316377:p.Arg131Cys					DLGAP1_ENST00000515196.2_Missense_Mutation_p.R131C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R131C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R131C|DLGAP1-AS3_ENST00000577649.1_RNA	p.R131C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	986	-		Colorectal(8;0.0257)	131					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.391C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719560	0.89205	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.21361	2.01;2.01	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.71414	0.869;0.938;0.973	T	0.59611	-0.7422	10	0.87932	D	0	-23.076	19.4529	0.94875	0.0:0.0:1.0:0.0	.	131;131;131	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	C	131	ENSP00000316377:R131C;ENSP00000445973:R131C	ENSP00000316377:R131C	R	-	1	0	DLGAP1	3869678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.595000	0.87683	0.655000	0.94253	CGC		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	127	0	0	0	1	0	14	127				
PCDHAC2	56134	broad.mit.edu	37	5	140348548	140348548	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140348548C>T	ENST00000289269.5	+	1	2729	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	733					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(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGCTACCGCTACACTGC	0.408																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2197-2199)Cgc>Tgc									83.0	81.0	82.0					5																	140348548		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348548C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2197C>T	5.37:g.140348548C>T	ENSP00000289269:p.Arg733Cys					PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.R733C	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2729	+			733					Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.2197C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663529	0.47572	.	.	ENSG00000243232	ENST00000289269	T	0.23147	1.92	5.66	5.66	0.87406	.	0.527099	0.16044	N	0.232266	T	0.32763	0.0840	M	0.68952	2.095	0.46167	D	0.998907	B;D	0.62365	0.364;0.991	B;B	0.44315	0.056;0.446	T	0.15178	-1.0446	10	0.72032	D	0.01	.	12.7891	0.57522	0.2728:0.7272:0.0:0.0	.	733;733	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	C	733	ENSP00000289269:R733C	ENSP00000289269:R733C	R	+	1	0	PCDHAC2	140328732	0.914000	0.31030	0.988000	0.46212	0.991000	0.79684	1.673000	0.37534	2.680000	0.91292	0.561000	0.74099	CGC		0.408	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	27	0	0	0	1	0	8	27				
SPTAN1	6709	broad.mit.edu	37	9	131381261	131381261	+	Silent	SNP	C	C	T	rs150960451		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131381261C>T	ENST00000372731.4	+	43	5807	c.5697C>T	c.(5695-5697)ggC>ggT	p.G1899G	SPTAN1_ENST00000358161.5_Silent_p.G1904G|SPTAN1_ENST00000372739.3_Silent_p.G1904G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1899					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						AAGATTATGGCGACACTCTTG	0.493																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			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.(5710-5712)ggC>ggT		spectrin, alpha, non-erythrocytic 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		5712,5637,5697	0.7	1.0	9	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1904/2478,1879/2453,1899/2473	131381261	1,13005	2203	4300	6503	SO:0001819	synonymous_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.chr9:131381261C>T	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.5697C>T	9.37:g.131381261C>T						SPTAN1_ENST00000372731.4_Silent_p.G1899G|SPTAN1_ENST00000372739.3_Silent_p.G1904G	p.G1904G			Q13813	SPTA2_HUMAN			44	5825	+			1899					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.5712C>T	CCDS6905.1																																																																																				0.493	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		8	27	0	0	0	1	0	8	27				
SPTB	6710	broad.mit.edu	37	14	65237622	65237622	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65237622C>T	ENST00000389721.5	-	26	5811	c.5779G>A	c.(5779-5781)Gag>Aag	p.E1927K	SPTB_ENST00000542895.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1927K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389722.3_Missense_Mutation_p.E1927K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1927					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTGGGTCTCGATCTGCCGG	0.647																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5779-5781)Gag>Aag		spectrin, beta, erythrocytic							49.0	52.0	51.0					14																	65237622		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65237622C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5779G>A	14.37:g.65237622C>T	ENSP00000374371:p.Glu1927Lys					SPTB_ENST00000556626.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1927K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1927K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1927K	p.E1927K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	26	5832	-		all_lung(585;4.15e-09)	1927					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5779G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349190	0.61183	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.14	5.14	0.70334	.	0.052330	0.85682	D	0.000000	T	0.55768	0.1941	L	0.48642	1.525	0.80722	D	1	P;D;D	0.59767	0.902;0.986;0.969	B;P;B	0.54174	0.254;0.744;0.295	T	0.55780	-0.8087	10	0.48119	T	0.1	.	17.7319	0.88380	0.0:1.0:0.0:0.0	.	711;1927;1931	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	K	1931;1927;711;592;1927;1927;1927;1927	ENSP00000374372:E1927K;ENSP00000451324:E592K;ENSP00000451752:E1927K;ENSP00000374371:E1927K;ENSP00000443882:E1927K;ENSP00000374370:E1927K	ENSP00000334218:E711K	E	-	1	0	SPTB	64307375	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.957000	0.63652	2.541000	0.85698	0.462000	0.41574	GAG		0.647	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			9	56	0	0	0	1	0	9	56				
EWSR1	2130	broad.mit.edu	37	22	29695246	29695246	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29695246G>A	ENST00000397938.2	+	15	1922	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	EWSR1_ENST00000331029.7_Missense_Mutation_p.A497T|EWSR1_ENST00000332050.6_Missense_Mutation_p.A462T|EWSR1_ENST00000406548.1_Missense_Mutation_p.A534T|EWSR1_ENST00000332035.6_Missense_Mutation_p.A479T|EWSR1_ENST00000414183.2_Missense_Mutation_p.A540T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGAACTTCGCCTGGAGAAC	0.517			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1603-1605)Gcc>Acc		EWS RNA-binding protein 1							165.0	157.0	160.0					22																	29695246		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695246G>A		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1603G>A	22.37:g.29695246G>A	ENSP00000381031:p.Ala535Thr					EWSR1_ENST00000331029.7_Missense_Mutation_p.A497T|EWSR1_ENST00000406548.1_Missense_Mutation_p.A534T|EWSR1_ENST00000414183.2_Missense_Mutation_p.A540T|EWSR1_ENST00000332050.6_Missense_Mutation_p.A462T|EWSR1_ENST00000332035.6_Missense_Mutation_p.A479T	p.A535T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			15	1922	+			535					B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1603G>A	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.586529|4.586529	0.86851|0.86851	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	T;T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.27;0.27|.	5.36|5.36	4.34|4.34	0.51931|0.51931	Zinc finger, RanBP2-type (4);|.	0.135789|.	0.47852|.	U|.	0.000217|.	D|D	0.83866|0.83866	0.5347|0.5347	M|M	0.92604|0.92604	3.325|3.325	0.50313|0.50313	D|D	0.999866|0.999866	B;B;B;B;B|.	0.31153|.	0.202;0.095;0.31;0.095;0.095|.	B;B;B;B;B|.	0.18871|.	0.018;0.023;0.023;0.016;0.016|.	D|D	0.87753|0.87753	0.2593|0.2593	10|5	0.72032|.	D|.	0.01|.	.|.	13.9347|13.9347	0.64017|0.64017	0.0736:0.0:0.9264:0.0|0.0736:0.0:0.9264:0.0	.|.	479;534;479;540;535|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	T|H	462;535;534;497;540;479|203	ENSP00000330896:A462T;ENSP00000381031:A535T;ENSP00000385726:A534T;ENSP00000330516:A497T;ENSP00000400142:A540T;ENSP00000331699:A479T|.	ENSP00000330516:A497T|.	A|R	+|+	1|2	0|0	EWSR1|EWSR1	28025246|28025246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.430000|4.430000	0.59907|0.59907	1.258000|1.258000	0.44101|0.44101	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.517	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		30	137	0	0	0	1	0	30	137				
PDZRN3	23024	broad.mit.edu	37	3	73433350	73433350	+	Silent	SNP	C	C	T	rs200099704		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73433350C>T	ENST00000263666.4	-	10	2481	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	PDZRN3_ENST00000535920.1_Silent_p.P511P|PDZRN3_ENST00000462146.2_Silent_p.P446P|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.P446P|PDZRN3_ENST00000479530.1_Silent_p.P506P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	789					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)		CTTCGCTGCTCGGGCAGCTGA	0.647																																						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.(2365-2367)ccG>ccA		PDZ domain containing ring finger 3							37.0	41.0	40.0					3																	73433350		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433350C>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.2367G>A	3.37:g.73433350C>T						PDZRN3_ENST00000462146.2_Silent_p.P446P|PDZRN3_ENST00000479530.1_Silent_p.P506P|PDZRN3_ENST00000466780.1_Silent_p.P446P|PDZRN3_ENST00000535920.1_Silent_p.P511P	p.P789P	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	2481	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	789					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2367G>A	CCDS33789.1																																																																																				0.647	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	47	0	0	0	1	0	10	47				
HTT	3064	broad.mit.edu	37	4	3235012	3235012	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3235012C>T	ENST00000355072.5	+	61	8533	c.8388C>T	c.(8386-8388)gaC>gaT	p.D2796D	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2796					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)		ACCTGCTGGACGACACTGCCA	0.657																																						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.(8386-8388)gaC>gaT		huntingtin							114.0	126.0	122.0					4																	3235012		2114	4225	6339	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.chr4:3235012C>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.8388C>T	4.37:g.3235012C>T						HTT_ENST00000513806.1_Intron	p.D2796D	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	61	8533	+		all_epithelial(65;0.18)	2796					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8388C>T	CCDS43206.1																																																																																				0.657	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		27	196	0	0	0	1	0	27	196				
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	rs374536178		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1831-1833)Cgg>Tgg		solute carrier organic anion transporter family, member 4C1		G	TRP/ARG	0,4406		0,0,2203	131.0	140.0	137.0		1831	6.0	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576467G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp						p.R611W	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2117	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	611						Missense_Mutation	SNP	ENST00000310954.6	37	c.1831C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG		0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		18	67	0	0	0	1	0	18	67				
AP5B1	91056	broad.mit.edu	37	11	65547172	65547172	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65547172C>T	ENST00000532090.2	-	2	1002	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	264	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GCAGCTCCCGCGCCTCCTCAG	0.692																																						ENST00000532090.2																			0				lung(1)	1						c.(790-792)gcG>gcA		adaptor-related protein complex 5, beta 1 subunit							40.0	51.0	47.0					11																	65547172		2091	4212	6303	SO:0001819	synonymous_variant	91056						protein binding	g.chr11:65547172C>T	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.792G>A	11.37:g.65547172C>T							p.A264A	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1002	-			207			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	c.792G>A	CCDS58146.1																																																																																				0.692	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		15	61	0	0	0	1	0	15	61				
IRGC	56269	broad.mit.edu	37	19	44223536	44223536	+	Missense_Mutation	SNP	G	G	A	rs147576016	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44223536G>A	ENST00000244314.5	+	2	1025	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	276						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGTGTTGGGCGTCATCCAGGC	0.637													G|||	21	0.00419329	0.0159	0.0	5008	,	,		17802	0.0		0.0	False		,,,				2504	0.0				Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(826-828)Gtc>Atc		immunity-related GTPase family, cinema		G	ILE/VAL	30,4376	36.0+/-67.5	1,28,2174	53.0	52.0	52.0		826	1.6	0.9	19	dbSNP_134	52	1,8597	1.2+/-3.3	0,1,4298	yes	missense	IRGC	NM_019612.3	29	1,29,6472	AA,AG,GG		0.0116,0.6809,0.2384	possibly-damaging	276/464	44223536	31,12973	2203	4299	6502	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223536G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.826G>A	19.37:g.44223536G>A	ENSP00000244314:p.Val276Ile						p.V276I	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	1025	+		Prostate(69;0.0435)	276					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.826G>A	CCDS12629.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	8.611	0.889235	0.17540	0.006809	1.16E-4	ENSG00000124449	ENST00000244314	T	0.21734	1.99	4.91	1.63	0.23807	.	0.744301	0.11939	N	0.514874	T	0.13243	0.0321	L	0.42245	1.32	0.09310	N	0.999996	D	0.57571	0.98	P	0.45276	0.475	T	0.12041	-1.0563	10	0.25751	T	0.34	.	8.3971	0.32564	0.2589:0.0:0.7411:0.0	.	276	Q6NXR0	IIGP5_HUMAN	I	276	ENSP00000244314:V276I	ENSP00000244314:V276I	V	+	1	0	IRGC	48915376	0.003000	0.15002	0.854000	0.33618	0.196000	0.23810	1.036000	0.30228	1.060000	0.40578	-0.136000	0.14681	GTC		0.637	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		7	51	0	0	0	1	0	7	51				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		5	57	0	0	0	1	0	5	57				
NTRK3	4916	broad.mit.edu	37	15	88423505	88423505	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:88423505G>A	ENST00000360948.2	-	18	2491	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	NTRK3_ENST00000355254.2_Missense_Mutation_p.T763M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T769M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T755M|NTRK3_ENST00000394480.2_Missense_Mutation_p.T763M	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTACCTCCGTGTTTGAGAG	0.502			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2287-2289)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 3							127.0	121.0	123.0					15																	88423505		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88423505G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2330C>T	15.37:g.88423505G>A	ENSP00000354207:p.Thr777Met	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.T755M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T763M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T769M|NTRK3_ENST00000360948.2_Missense_Mutation_p.T777M	p.T763M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2609	-			777			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2288C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588030	0.66105	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.34	4.42	0.53409	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108651	0.64402	N	0.000007	T	0.74658	0.3745	N	0.05414	-0.055	0.80722	D	1	P;D;P	0.64830	0.761;0.994;0.761	B;P;B	0.51415	0.403;0.669;0.403	T	0.77310	-0.2635	10	0.46703	T	0.11	.	12.3564	0.55178	0.0822:0.0:0.9178:0.0	.	755;763;777	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	M	763;777;769;763	ENSP00000377990:T763M;ENSP00000354207:T777M;ENSP00000350356:T769M;ENSP00000347397:T763M	ENSP00000347397:T763M	T	-	2	0	NTRK3	86224509	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	4.516000	0.60496	1.236000	0.43740	0.655000	0.94253	ACG		0.502	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				12	67	0	0	0	1	0	12	67				
LRP1	4035	broad.mit.edu	37	12	57588369	57588369	+	Missense_Mutation	SNP	G	G	A	rs199834508		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:57588369G>A	ENST00000243077.3	+	50	8544	c.8078G>A	c.(8077-8079)cGc>cAc	p.R2693H	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2693					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)	GGTGTGAAACGCCCCAGATGC	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.(8077-8079)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						58.0	60.0	59.0					12																	57588369		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.chr12:57588369G>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.8078G>A	12.37:g.57588369G>A	ENSP00000243077:p.Arg2693His						p.R2693H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	50	8544	+			2693					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8078G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.300003	0.60195	.	.	ENSG00000123384	ENST00000243077	D	0.91237	-2.81	5.23	5.23	0.72850	.	0.169384	0.40302	N	0.001124	T	0.76644	0.4016	N	0.12471	0.22	0.80722	D	1	P	0.48350	0.909	B	0.32090	0.14	T	0.78008	-0.2372	10	0.33141	T	0.24	.	10.2424	0.43321	0.0911:0.0:0.9089:0.0	.	2693	Q07954	LRP1_HUMAN	H	2693	ENSP00000243077:R2693H	ENSP00000243077:R2693H	R	+	2	0	LRP1	55874636	0.905000	0.30787	0.999000	0.59377	0.951000	0.60555	2.198000	0.42705	2.594000	0.87642	0.457000	0.33378	CGC		0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	76	0	0	0	1	0	13	76				
TNRC6C	57690	broad.mit.edu	37	17	76045218	76045218	+	Silent	SNP	C	C	T	rs138478334		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76045218C>T	ENST00000588061.1	+	5	802	c.75C>T	c.(73-75)ggC>ggT	p.G25G	TNRC6C_ENST00000335749.4_Silent_p.G25G|TNRC6C_ENST00000544502.1_Silent_p.G25G|TNRC6C_ENST00000588847.1_Silent_p.G25G|TNRC6C_ENST00000301624.4_Silent_p.G25G|TNRC6C_ENST00000541771.1_Silent_p.G25G			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	25	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCACCAATGGCGCACTCGTCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21839	0.0		0.0	False		,,,				2504	0.0					ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(73-75)ggC>ggT		trinucleotide repeat containing 6C		C	,	1,4127		0,1,2063	50.0	51.0	50.0		75,75	0.8	0.4	17	dbSNP_134	50	1,8409		0,1,4204	no	coding-synonymous,coding-synonymous	TNRC6C	NM_001142640.1,NM_018996.3	,	0,2,6267	TT,TC,CC		0.0119,0.0242,0.016	,	25/1727,25/1691	76045218	2,12536	2064	4205	6269	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045218C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.75C>T	17.37:g.76045218C>T						TNRC6C_ENST00000588847.1_Silent_p.G25G|TNRC6C_ENST00000301624.4_Silent_p.G25G|TNRC6C_ENST00000588061.1_Silent_p.G25G|TNRC6C_ENST00000544502.1_Silent_p.G25G|TNRC6C_ENST00000541771.1_Silent_p.G25G	p.G25G	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	644	+			25			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.75C>T	CCDS45798.1																																																																																				0.552	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		7	26	0	0	0	1	0	7	26				
VPS13A	23230	broad.mit.edu	37	9	79898329	79898329	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79898329G>A	ENST00000360280.3	+	30	3437	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_Silent_p.S1059S|VPS13A_ENST00000376634.4_Silent_p.S1059S|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1059					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAATTATCGTGTTTACAGA	0.244																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3175-3177)tcG>tcA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							30.0	32.0	31.0					9																	79898329		2189	4278	6467	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79898329G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3177G>A	9.37:g.79898329G>A						VPS13A_ENST00000357409.5_Silent_p.S1059S|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.S1059S|VPS13A_ENST00000376636.3_Intron	p.S1059S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			30	3437	+			1059					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.3177G>A	CCDS6655.1																																																																																				0.244	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	12	0	0	0	1	0	4	12				
MTF1	4520	broad.mit.edu	37	1	38305823	38305823	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38305823C>T	ENST00000373036.4	-	3	556	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACATTGGTACCGCTTTACCTG	0.547																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(415-417)cGg>cAg		metal-regulatory transcription factor 1							103.0	97.0	99.0					1																	38305823		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305823C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.416G>A	1.37:g.38305823C>T	ENSP00000362127:p.Arg139Gln						p.R139Q	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			3	556	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	139					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.416G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	36	5.731229	0.96856	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.15256	2.44	5.65	5.65	0.86999	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.114925	0.56097	D	0.000022	T	0.39545	0.1082	L	0.52573	1.65	0.53688	D	0.999975	D	0.89917	1.0	D	0.80764	0.994	T	0.05666	-1.0871	10	0.66056	D	0.02	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	139	Q14872	MTF1_HUMAN	Q	139;7	ENSP00000362127:R139Q	ENSP00000362127:R139Q	R	-	2	0	MTF1	38078410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.594000	0.82698	2.665000	0.90641	0.650000	0.86243	CGG		0.547	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		15	46	0	0	0	1	0	15	46				
PLA2G4B	100137049	broad.mit.edu	37	15	42132808	42132808	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:42132808A>G	ENST00000452633.1	+	4	521	c.169A>G	c.(169-171)Agc>Ggc	p.S57G	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S288G|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S288G|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57G|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288G			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	57	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAACAGCAGTAGCCCTGTCTG	0.617																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(862-864)Agc>Ggc									76.0	78.0	77.0					15																	42132808		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42132808A>G	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.169A>G	15.37:g.42132808A>G	ENSP00000396045:p.Ser57Gly					JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288G|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57G|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S57G	p.S288G	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			8	871	+			57			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.862A>G	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	16.20	3.054601	0.55218	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.04	3.92	0.45320	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.428514	0.25575	N	0.029723	T	0.61350	0.2340	M	0.62723	1.935	0.22771	N	0.99875	B;B;B	0.27068	0.12;0.015;0.167	B;B;B	0.31016	0.123;0.023;0.054	T	0.59166	-0.7505	10	0.72032	D	0.01	-1.8224	6.4561	0.21930	0.8147:0.0:0.1852:0.0	.	57;288;288	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	G	288;288;57;57	ENSP00000371886:S288G;ENSP00000342785:S288G;ENSP00000416610:S57G;ENSP00000396045:S57G	ENSP00000342785:S288G	S	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920100	0.108000	0.22018	0.987000	0.45799	0.949000	0.60115	1.512000	0.35812	1.069000	0.40788	0.533000	0.62120	AGC		0.617	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		20	56	0	0	0	1	0	20	56				
PHF1	5252	broad.mit.edu	37	6	33383810	33383810	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33383810C>T	ENST00000374516.3	+	15	1910	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	547					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGTCCTTGCTCGGAGAGTACG	0.632																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1639-1641)Cgg>Tgg		PHD finger protein 1							86.0	85.0	85.0					6																	33383810		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383810C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1639C>T	6.37:g.33383810C>T	ENSP00000363640:p.Arg547Trp					PHF1_ENST00000374512.3_3'UTR	p.R547W	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1910	+		Ovarian(999;0.0443)	547					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1639C>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188423	0.57909	.	.	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.36157	1.27	4.54	3.63	0.41609	.	0.000000	0.53938	D	0.000054	T	0.32912	0.0845	L	0.55990	1.75	0.42052	D	0.991125	D	0.76494	0.999	P	0.57960	0.83	T	0.08994	-1.0695	9	.	.	.	-12.0456	9.4203	0.38548	0.2433:0.7567:0.0:0.0	.	547	O43189	PHF1_HUMAN	W	547;161	ENSP00000363640:R547W	.	R	+	1	2	PHF1	33491788	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.095000	0.41729	1.065000	0.40693	0.655000	0.94253	CGG		0.632	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			19	115	0	0	0	1	0	19	115				
BMP7	655	broad.mit.edu	37	20	55840761	55840761	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:55840761C>T	ENST00000395863.3	-	1	923	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	BMP7_ENST00000450594.2_Splice_Site_p.V140M|RP4-813D12.3_ENST00000412321.1_lincRNA|BMP7_ENST00000395864.3_Splice_Site_p.V140M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	140					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)	p.V140M(1)		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)			CCTTACTCACCGAGGTTGACG	0.622																																						ENST00000395863.3																			1	Substitution - Missense(1)	p.V140M(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.e1+1		bone morphogenetic protein 7							25.0	20.0	22.0					20																	55840761		2201	4299	6500	SO:0001630	splice_region_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.chr20:55840761C>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.418+1G>A	20.37:g.55840761C>T						BMP7_ENST00000450594.2_Splice_Site_p.V140_splice|BMP7_ENST00000395864.3_Splice_Site_p.V140_splice	p.V140_splice	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)		1	923	-	all_lung(29;0.0133)|Melanoma(10;0.242)		140					Q9H512|Q9NTQ7	Splice_Site	SNP	ENST00000395863.3	37	c.418_splice	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.963763|3.963763	0.74131|0.74131	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Transforming growth factor-beta, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82328|0.82328	0.5013|0.5013	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.89917	.|1.0;0.656;0.999	.|D;P;D	.|0.91635	.|0.999;0.728;0.958	D|D	0.85215|0.85215	0.1023|0.1023	5|9	.|.	.|.	.|.	.|.	18.385|18.385	0.90464|0.90464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;140;140	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	H|M	25|140	.|ENSP00000379204:V140M;ENSP00000379205:V140M;ENSP00000398687:V140M	.|.	R|V	-|-	2|1	0|0	BMP7|BMP7	55274168|55274168	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.980000|0.980000	0.70556|0.70556	4.559000|4.559000	0.60796|0.60796	2.311000|2.311000	0.77944|0.77944	0.491000|0.491000	0.48974|0.48974	CGT|GTG		0.622	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		Missense_Mutation	4	5	0	0	0	1	0	4	5				
MLLT6	4302	broad.mit.edu	37	17	36880921	36880921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36880921C>T	ENST00000325718.7	+	19	3023	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	978	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCAGCAGAAACGGGAGCTGCA	0.652			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2932-2934)Cgg>Tgg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							20.0	22.0	21.0					17																	36880921		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36880921C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2932C>T	17.37:g.36880921C>T	ENSP00000316426:p.Arg978Trp						p.R978W	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			19	3023	+	Breast(7;4.43e-21)		978			Gln-rich.		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.2932C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812357	0.50527	.	.	ENSG00000108292	ENST00000325718	T	0.57436	0.4	5.19	4.21	0.49690	.	0.145914	0.30649	N	0.009168	T	0.64746	0.2626	L	0.50333	1.59	0.45239	D	0.998249	D	0.89917	1.0	D	0.77557	0.99	T	0.67051	-0.5768	10	0.66056	D	0.02	.	11.6235	0.51132	0.4266:0.5734:0.0:0.0	.	978	P55198	AF17_HUMAN	W	978	ENSP00000316426:R978W	ENSP00000316426:R978W	R	+	1	2	MLLT6	34134447	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.215000	0.17562	1.539000	0.49286	0.655000	0.94253	CGG		0.652	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		3	27	0	0	0	1	0	3	27				
TBATA	219793	broad.mit.edu	37	10	72541754	72541754	+	Missense_Mutation	SNP	C	C	T	rs200788611		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:72541754C>T	ENST00000299290.1	-	4	469	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TBATA_ENST00000456372.2_Missense_Mutation_p.R27H|TBATA_ENST00000545575.1_Missense_Mutation_p.R17H	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CCTTGGCTTGCGCCCTGACTT	0.592																																						ENST00000299290.1																			0											c.(79-81)cGc>cAc		thymus, brain and testes associated							73.0	77.0	75.0					10																	72541754		2203	4300	6503	SO:0001583	missense	219793							g.chr10:72541754C>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.80G>A	10.37:g.72541754C>T	ENSP00000299290:p.Arg27His					TBATA_ENST00000545575.1_Missense_Mutation_p.R17H|TBATA_ENST00000456372.2_Missense_Mutation_p.R27H	p.R27H	NM_152710.2	NP_689923.2					4	469	-								A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.80G>A	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	1.001	-0.691041	0.03303	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.42513	0.97	5.16	-10.3	0.00346	.	2.595140	0.00973	N	0.003262	T	0.09113	0.0225	N	0.00347	-1.61	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.001;0.0	T	0.35450	-0.9788	10	0.29301	T	0.29	0.8149	2.1381	0.03768	0.1711:0.2167:0.3799:0.2324	.	16;16;27;27;17;27	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	H	27;14;27;17	ENSP00000299290:R27H	ENSP00000299290:R27H	R	-	2	0	C10orf27	72211760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.368000	0.02580	-2.434000	0.00554	-2.674000	0.00144	CGC		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		14	74	0	0	0	1	0	14	74				
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(850-852)ggC>ggT		GTPase, IMAP family member 1							9.0	10.0	10.0					7																	150417944		2000	4017	6017	SO:0001819	synonymous_variant	170575							g.chr7:150417944C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.852C>T	7.37:g.150417944C>T							p.G284G	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	992	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.852C>T	CCDS5906.1																																																																																				0.687	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		4	16	0	0	0	1	0	4	16				
OR4N2	390429	broad.mit.edu	37	14	20295816	20295816	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:20295816A>G	ENST00000315947.1	+	1	209	c.209A>G	c.(208-210)gAt>gGt	p.D70G	OR4N2_ENST00000568211.1_Missense_Mutation_p.D70G	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTCCTGGATGCATCCTAC	0.488																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(208-210)gAt>gGt		olfactory receptor, family 4, subfamily N, member 2							162.0	191.0	181.0					14																	20295816		2203	4297	6500	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295816A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.209A>G	14.37:g.20295816A>G	ENSP00000319601:p.Asp70Gly					OR4N2_ENST00000315947.1_Missense_Mutation_p.D70G	p.D70G			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	209	+	all_cancers(95;0.00108)		70					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.209A>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.950956	0.73787	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.01172	5.23;5.23	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.08935	0.0221	H	0.94423	3.535	0.41853	D	0.990185	D	0.69078	0.997	D	0.64042	0.921	T	0.00536	-1.1683	10	0.87932	D	0	-9.9015	11.7038	0.51585	1.0:0.0:0.0:0.0	.	70	Q8NGD1	OR4N2_HUMAN	G	70	ENSP00000452022:D70G;ENSP00000319601:D70G	ENSP00000319601:D70G	D	+	2	0	OR4N2	19365656	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.615000	0.74201	1.922000	0.55676	0.482000	0.46254	GAT		0.488	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			28	145	0	0	0	1	0	28	145				
LILRA2	11027	broad.mit.edu	37	19	55086796	55086796	+	Silent	SNP	G	G	A	rs148748826		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55086796G>A	ENST00000251377.3	+	6	862	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Q243Q|LILRA2_ENST00000391738.3_Silent_p.Q243Q|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q231Q|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	243	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTCCAGTGTGTCTCTG	0.577																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(727-729)caG>caA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							113.0	114.0	113.0					19																	55086796		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:55086796G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.729G>A	19.37:g.55086796G>A						LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q231Q|LILRA2_ENST00000391738.3_Silent_p.Q243Q|LILRA2_ENST00000251376.3_Silent_p.Q243Q	p.Q243Q						GBM - Glioblastoma multiforme(193;0.0963)	6	862	+								O75020	Silent	SNP	ENST00000251377.3	37	c.729G>A	CCDS46179.1																																																																																				0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			15	94	0	0	0	1	0	15	94				
SHMT1	6470	broad.mit.edu	37	17	18232643	18232643	+	Missense_Mutation	SNP	G	G	A	rs375139072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18232643G>A	ENST00000316694.3	-	11	1365	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	SHMT1_ENST00000354098.3_Missense_Mutation_p.R372C|SHMT1_ENST00000352886.6_Missense_Mutation_p.R331C|SHMT1_ENST00000539052.1_Missense_Mutation_p.R273C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	411					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	AAAAGTCCACGGGACGTCAGT	0.483																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1231-1233)Cgt>Tgt		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	53.0	54.0	54.0		1231,1114	4.5	1.0	17		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SHMT1	NM_004169.3,NM_148918.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	411/484,372/445	18232643	1,13005	2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232643G>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1231C>T	17.37:g.18232643G>A	ENSP00000318868:p.Arg411Cys					SHMT1_ENST00000352886.6_Missense_Mutation_p.R331C|SHMT1_ENST00000539052.1_Missense_Mutation_p.R273C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R372C	p.R411C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			11	1365	-			411					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1231C>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068319	0.76301	0.0	1.16E-4	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.61274	0.12;1.22;0.12;1.22	5.52	4.49	0.54785	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91021	0.4857	10	0.87932	D	0	-8.6447	14.1676	0.65488	0.0:0.0:0.7483:0.2517	.	372;411	P34896-2;P34896	.;GLYC_HUMAN	C	411;186;331;273;372	ENSP00000318868:R411C;ENSP00000345881:R331C;ENSP00000440089:R273C;ENSP00000318805:R372C	ENSP00000318868:R411C	R	-	1	0	SHMT1	18173368	1.000000	0.71417	0.978000	0.43139	0.918000	0.54935	1.542000	0.36137	2.761000	0.94854	0.655000	0.94253	CGT		0.483	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		3	17	0	0	0	1	0	3	17				
PARP15	165631	broad.mit.edu	37	3	122340432	122340432	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122340432C>T	ENST00000464300.2	+	8	1271	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	PARP15_ENST00000310366.4_Missense_Mutation_p.S168L|PARP15_ENST00000493645.1_Missense_Mutation_p.S168L|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Missense_Mutation_p.S276L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	402	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTACACATCGGTTTCCCTT	0.383																																						ENST00000483793.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(826-828)tCg>tTg		poly (ADP-ribose) polymerase family, member 15							133.0	118.0	123.0					3																	122340432		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122340432C>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1205C>T	3.37:g.122340432C>T	ENSP00000417214:p.Ser402Leu					PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.S168L|PARP15_ENST00000464300.2_Missense_Mutation_p.S402L|PARP15_ENST00000310366.4_Missense_Mutation_p.S168L	p.S276L			Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	867	+			444			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.827C>T	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898479	0.72639	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.34859	1.34;1.69;1.34;1.34	3.98	3.98	0.46160	Appr-1-p processing (3);	0.573015	0.13319	N	0.396807	T	0.71719	0.3373	H	0.96239	3.79	0.18873	N	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.976	D;D;D;D;P	0.91635	0.993;0.998;0.999;0.999;0.503	T	0.66114	-0.6004	10	0.87932	D	0	.	13.9217	0.63935	0.0:1.0:0.0:0.0	.	168;168;149;276;380	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	L	402;276;149;168;168	ENSP00000417214:S402L;ENSP00000417785:S276L;ENSP00000308436:S168L;ENSP00000419488:S168L	ENSP00000308436:S168L	S	+	2	0	PARP15	123823122	0.731000	0.28111	0.049000	0.19019	0.326000	0.28443	4.649000	0.61433	2.224000	0.72417	0.655000	0.94253	TCG		0.383	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		11	81	0	0	0	1	0	11	81				
NEURL4	84461	broad.mit.edu	37	17	7221199	7221199	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7221199G>A	ENST00000399464.2	-	26	4128	c.4113C>T	c.(4111-4113)tgC>tgT	p.C1371C	NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000391950.3_5'Flank|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000315614.7_Silent_p.C1369C|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.A185V|NEURL4_ENST00000570460.1_Silent_p.C1347C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1371						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						GCAGCTTCCGGCAAGACTCAC	0.587																																						ENST00000575474.1																			0											c.(553-555)gCc>gTc									57.0	61.0	60.0					17																	7221199		2105	4232	6337	SO:0001819	synonymous_variant	0							g.chr17:7221199G>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.4113C>T	17.37:g.7221199G>A						NEURL4_ENST00000399464.2_Silent_p.C1371C|NEURL4_ENST00000570460.1_Silent_p.C1347C|NEURL4_ENST00000315614.7_Silent_p.C1369C|NEURL4_ENST00000574120.1_5'UTR	p.A185V							5	553	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.554C>T	CCDS42251.1																																																																																				0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		12	73	0	0	0	1	0	12	73				
ACSS1	84532	broad.mit.edu	37	20	24994194	24994194	+	Silent	SNP	G	G	A	rs139870683		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:24994194G>A	ENST00000323482.4	-	10	1636	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	ACSS1_ENST00000542618.1_Silent_p.D398D|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Silent_p.D436D|ACSS1_ENST00000432802.2_Silent_p.D519D	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	519					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGAAGTAGGCGTCCACAAATC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19382	0.0		0.0	False		,,,				2504	0.0					ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1306-1308)gaC>gaT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	G		1,4405	2.1+/-5.4	0,1,2202	46.0	44.0	45.0		1557	-9.4	0.0	20	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACSS1	NM_032501.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		519/690	24994194	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24994194G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1557C>T	20.37:g.24994194G>A						ACSS1_ENST00000432802.2_Silent_p.D519D|ACSS1_ENST00000323482.4_Silent_p.D519D|ACSS1_ENST00000542618.1_Silent_p.D398D	p.D436D			Q9NUB1	ACS2L_HUMAN			8	2839	-			519					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.1308C>T	CCDS13167.1																																																																																				0.572	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		5	35	0	0	0	1	0	5	35				
SSH2	85464	broad.mit.edu	37	17	27999103	27999103	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:27999103G>A	ENST00000269033.3	-	8	729	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SSH2_ENST00000324677.7_5'Flank|SSH2_ENST00000540801.1_Missense_Mutation_p.A220V|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGTTATGCGCTCTGGCGAC	0.468																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(577-579)gCg>gTg		slingshot protein phosphatase 2							156.0	139.0	145.0					17																	27999103		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999103G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.578C>T	17.37:g.27999103G>A	ENSP00000269033:p.Ala193Val					SSH2_ENST00000540801.1_Missense_Mutation_p.A220V|RP11-68I3.2_ENST00000581474.1_RNA	p.A193V	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			8	729	-			193					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.578C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052540	0.36181	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.33865	1.39;1.39	5.67	3.44	0.39384	.	0.322824	0.40818	N	0.001007	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.003;0.007;0.001	B;B;B	0.14023	0.01;0.005;0.004	T	0.04781	-1.0927	10	0.29301	T	0.29	-2.9649	9.0367	0.36291	0.7409:0.1763:0.0828:0.0	.	220;193;193	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	V	193;220;193	ENSP00000269033:A193V;ENSP00000444743:A220V	ENSP00000269033:A193V	A	-	2	0	SSH2	25023229	0.250000	0.23951	1.000000	0.80357	0.863000	0.49368	1.741000	0.38238	0.985000	0.38656	-0.492000	0.04666	GCG		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		10	33	0	0	0	1	0	10	33				
PCDHGB2	56103	broad.mit.edu	37	5	140741805	140741805	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140741805G>A	ENST00000522605.1	+	1	2103	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	701					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)			TGATCTCAGTGCTCTTCTTCC	0.577																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(2101-2103)gtG>gtA									96.0	99.0	98.0					5																	140741805		2048	4193	6241	SO:0001819	synonymous_variant	0							g.chr5:140741805G>A	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.2103G>A	5.37:g.140741805G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V701V	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	2103	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.2103G>A	CCDS54924.1																																																																																				0.577	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		21	67	0	0	0	1	0	21	67				
CYP1A2	1544	broad.mit.edu	37	15	75047381	75047381	+	Silent	SNP	C	C	T	rs111900570		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:75047381C>T	ENST00000343932.4	+	7	1566	c.1503C>T	c.(1501-1503)caC>caT	p.H501H		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	501					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCATGAAGCACGCCCGCTGTG	0.627																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1501-1503)caC>caT		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	C		0,4394		0,0,2197	61.0	53.0	56.0		1503	-3.7	0.0	15	dbSNP_132	56	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CYP1A2	NM_000761.3		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		501/517	75047381	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047381C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1503C>T	15.37:g.75047381C>T							p.H501H	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			7	1566	+			501					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.1503C>T	CCDS32293.1																																																																																				0.627	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		14	44	0	0	0	1	0	14	44				
SBF1	6305	broad.mit.edu	37	22	50892978	50892978	+	Missense_Mutation	SNP	G	G	A	rs376409019		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:50892978G>A	ENST00000390679.3	-	35	5112	c.4928C>T	c.(4927-4929)cCg>cTg	p.P1643L	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.P1644L|SBF1_ENST00000380817.3_Missense_Mutation_p.P1669L			O95248	MTMR5_HUMAN	SET binding factor 1	1643					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)		CTGGGCCCGCGGGCAGCTGTC	0.701																																						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.(5005-5007)cCg>cTg		SET binding factor 1		G	LEU/PRO	0,4080		0,0,2040	29.0	36.0	34.0		5006	3.5	0.7	22		34	1,8307		0,1,4153	no	missense	SBF1	NM_002972.2	98	0,1,6193	AA,AG,GG		0.012,0.0,0.0081	benign	1669/1894	50892978	1,12387	2040	4154	6194	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50892978G>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.4928C>T	22.37:g.50892978G>A	ENSP00000375097:p.Pro1643Leu					SBF1_ENST00000390679.3_Missense_Mutation_p.P1643L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1644L	p.P1669L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	36	5189	-		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)	1643					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.5006C>T		.	.	.	.	.	.	.	.	.	.	G	11.84	1.758446	0.31137	0.0	1.2E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.85861	-2.04;-2.04;-2.04	4.54	3.5	0.40072	.	0.490754	0.19681	N	0.108506	T	0.66036	0.2749	N	0.14661	0.345	0.19300	N	0.999971	B;P;B	0.42039	0.174;0.769;0.078	B;B;B	0.28305	0.043;0.088;0.03	T	0.60835	-0.7184	10	0.35671	T	0.21	.	9.3979	0.38415	0.0897:0.1925:0.7178:0.0	.	1643;1669;190	O95248;O95248-4;A6PVG7	MTMR5_HUMAN;.;.	L	1669;1644;1679;1643	ENSP00000370196:P1669L;ENSP00000252027:P1644L;ENSP00000375097:P1643L	ENSP00000336522:P1679L	P	-	2	0	SBF1	49239844	0.012000	0.17670	0.652000	0.29579	0.864000	0.49448	0.830000	0.27462	2.236000	0.73375	0.462000	0.41574	CCG		0.701	SBF1-201	KNOWN	basic	protein_coding	protein_coding				14	69	0	0	0	1	0	14	69				
AP3M1	26985	broad.mit.edu	37	10	75888897	75888897	+	Nonsense_Mutation	SNP	G	G	A	rs190136804		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:75888897G>A	ENST00000355264.4	-	6	1083	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP3M1_ENST00000372745.1_Nonsense_Mutation_p.R258*	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	258	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GATATGAGTCGGAAATTTCCA	0.438																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(772-774)Cga>Tga		adaptor-related protein complex 3, mu 1 subunit		G	stop/ARG,stop/ARG	0,4406		0,0,2203	103.0	95.0	98.0		772,772	4.4	1.0	10		98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	AP3M1	NM_012095.4,NM_207012.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	258/419,258/419	75888897	1,13005	2203	4300	6503	SO:0001587	stop_gained	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75888897G>A	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.772C>T	10.37:g.75888897G>A	ENSP00000347408:p.Arg258*					AP3M1_ENST00000372745.1_Nonsense_Mutation_p.R258*	p.R258*	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			6	1083	-	Prostate(51;0.0112)		258			MHD.		Q5JQ12|Q9H5L2	Nonsense_Mutation	SNP	ENST00000355264.4	37	c.772C>T	CCDS7342.1	169	0.07738095238095238	53	0.10772357723577236	20	0.055248618784530384	34	0.05944055944055944	62	0.08179419525065963	G	38	6.856672	0.97889	0.0	1.16E-4	ENSG00000185009	ENST00000355264;ENST00000372745	.	.	.	5.33	4.43	0.53597	.	0.300724	0.29916	N	0.010878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	13.5598	0.61782	0.0:0.0:0.6598:0.3402	.	.	.	.	X	258	.	ENSP00000347408:R258X	R	-	1	2	AP3M1	75558903	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.576000	0.53878	1.242000	0.43836	-0.470000	0.05040	CGA		0.438	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			9	43	0	0	0	1	0	9	43				
EOMES	8320	broad.mit.edu	37	3	27759145	27759145	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:27759145C>T	ENST00000295743.4	-	6	1680	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Missense_Mutation_p.E512K|EOMES_ENST00000537516.1_Missense_Mutation_p.E217K			O95936	EOMES_HUMAN	eomesodermin	493					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGGTTCTCTCGCCATTATAA	0.572																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1477-1479)Gag>Aag		eomesodermin							95.0	101.0	99.0					3																	27759145		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759145C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1477G>A	3.37:g.27759145C>T	ENSP00000295743:p.Glu493Lys					EOMES_ENST00000537516.1_Missense_Mutation_p.E217K|EOMES_ENST00000449599.1_Missense_Mutation_p.E512K	p.E493K			O95936	EOMES_HUMAN			6	1680	-			493					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1477G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517522	0.85495	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.86627	-2.09;-2.15;-1.8	4.71	4.71	0.59529	.	1.384890	0.04452	N	0.372798	D	0.93455	0.7912	M	0.70595	2.14	0.80722	D	1	P;D;D	0.69078	0.851;0.997;0.997	B;P;P	0.59643	0.326;0.861;0.73	D	0.86199	0.1617	10	0.56958	D	0.05	.	18.5481	0.91054	0.0:1.0:0.0:0.0	.	226;512;493	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	K	493;512;217;377	ENSP00000295743:E493K;ENSP00000388620:E512K;ENSP00000442097:E217K	ENSP00000295743:E493K	E	-	1	0	EOMES	27734149	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.551000	0.86045	0.563000	0.77884	GAG		0.572	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		9	90	0	0	0	1	0	9	90				
SEZ6L2	26470	broad.mit.edu	37	16	29884628	29884628	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:29884628G>A	ENST00000308713.5	-	14	2948	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G	SEZ6L2_ENST00000346932.5_Silent_p.G693G|SEZ6L2_ENST00000537485.1_Silent_p.G763G|SEZ6L2_ENST00000350527.3_Silent_p.G737G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	807	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGACCTCGCCGATAAGCT	0.642																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2419-2421)ggC>ggT		seizure related 6 homolog (mouse)-like 2							91.0	89.0	90.0					16																	29884628		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884628G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2421C>T	16.37:g.29884628G>A						SEZ6L2_ENST00000537485.1_Silent_p.G763G|SEZ6L2_ENST00000350527.3_Silent_p.G737G|SEZ6L2_ENST00000346932.5_Silent_p.G693G	p.G807G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			14	2948	-			807			Sushi 5.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.2421C>T	CCDS10659.1																																																																																				0.642	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		16	73	0	0	0	1	0	16	73				
DCLRE1A	9937	broad.mit.edu	37	10	115610038	115610038	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:115610038G>A	ENST00000361384.2	-	2	1743	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R276C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	276					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTGCAAGACGCAAAGCAACT	0.383								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(826-828)Cgt>Tgt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							92.0	89.0	90.0					10																	115610038		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610038G>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.826C>T	10.37:g.115610038G>A	ENSP00000355185:p.Arg276Cys					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R276C	p.R276C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1743	-			276					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.826C>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500933	0.44455	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.63913	-0.07;-0.07	6.02	5.1	0.69264	.	1.301500	0.04798	N	0.432977	T	0.46983	0.1421	N	0.08118	0	0.19945	N	0.999945	P	0.46327	0.876	B	0.36766	0.232	T	0.53753	-0.8394	10	0.48119	T	0.1	-3.9787	15.503	0.75716	0.0:0.1376:0.8624:0.0	.	276	Q6PJP8	DCR1A_HUMAN	C	276	ENSP00000355185:R276C;ENSP00000358311:R276C	ENSP00000355185:R276C	R	-	1	0	DCLRE1A	115600028	0.967000	0.33354	0.200000	0.23457	0.851000	0.48451	2.067000	0.41461	1.514000	0.48869	0.650000	0.86243	CGT		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		10	45	0	0	0	1	0	10	45				
PTX4	390667	broad.mit.edu	37	16	1536525	1536525	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1536525G>A	ENST00000447419.2	-	3	877	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PTX4_ENST00000440447.2_Missense_Mutation_p.S136F|PTX4_ENST00000293922.1_Silent_p.V279V			Q96A99	PTX4_HUMAN	pentraxin 4, long	284	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGAGGAAGACCACGTTCC	0.662																																						ENST00000440447.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(406-408)tCt>tTt		pentraxin 4, long							56.0	58.0	58.0					16																	1536525		2199	4300	6499	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1536525G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.852C>T	16.37:g.1536525G>A						PTX4_ENST00000293922.1_Silent_p.V279V|PTX4_ENST00000447419.2_Silent_p.V284V	p.S136F			Q96A99	PTX4_HUMAN			3	478	-			0						Missense_Mutation	SNP	ENST00000447419.2	37	c.407C>T																																																																																					0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		11	48	0	0	0	1	0	11	48				
DPP4	1803	broad.mit.edu	37	2	162875737	162875737	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:162875737A>G	ENST00000360534.3	-	15	1854	c.1294T>C	c.(1294-1296)Tat>Cat	p.Y432H	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	432					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)	TCTTACTTATAAAGATTCCTT	0.284																																						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.(1294-1296)Tat>Cat		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						58.0	63.0	61.0					2																	162875737		2202	4297	6499	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.chr2:162875737A>G	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.1294T>C	2.37:g.162875737A>G	ENSP00000353731:p.Tyr432His						p.Y432H	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			15	1854	-			432					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1294T>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799114	0.90538	.	.	ENSG00000197635	ENST00000360534	T	0.68331	-0.32	5.9	5.9	0.94986	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86791	0.1985	10	0.66056	D	0.02	.	16.3245	0.82970	1.0:0.0:0.0:0.0	.	432	P27487	DPP4_HUMAN	H	432	ENSP00000353731:Y432H	ENSP00000353731:Y432H	Y	-	1	0	DPP4	162583983	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.190000	0.89714	2.254000	0.74563	0.460000	0.39030	TAT		0.284	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			11	44	0	0	0	1	0	11	44				
RGMA	56963	broad.mit.edu	37	15	93595350	93595350	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93595350G>A	ENST00000329082.7	-	3	789	c.518C>T	c.(517-519)aCt>aTt	p.T173I	RGMA_ENST00000542321.2_Missense_Mutation_p.T157I|RGMA_ENST00000557301.1_Missense_Mutation_p.T181I|RGMA_ENST00000425933.2_Missense_Mutation_p.T157I|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_Missense_Mutation_p.T64I|RGMA_ENST00000543599.1_Missense_Mutation_p.T157I|RGMA_ENST00000538818.1_Missense_Mutation_p.T64I|RGMA_ENST00000556087.1_Missense_Mutation_p.T157I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	173					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTCGGTGAAAGTCCTGAGGTG	0.602																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(517-519)aCt>aTt		repulsive guidance molecule family member a							54.0	66.0	62.0					15																	93595350		2127	4222	6349	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595350G>A	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.518C>T	15.37:g.93595350G>A	ENSP00000330005:p.Thr173Ile					RGMA_ENST00000425933.2_Missense_Mutation_p.T157I|RGMA_ENST00000543599.1_Missense_Mutation_p.T157I|RGMA_ENST00000556087.1_Missense_Mutation_p.T157I|RGMA_ENST00000542321.2_Missense_Mutation_p.T157I|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.T181I|RGMA_ENST00000538818.1_Missense_Mutation_p.T64I|RGMA_ENST00000556658.1_Missense_Mutation_p.T64I	p.T173I	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	789	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		173					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.518C>T	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884935	0.91814	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	5.28	5.28	0.74379	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99856	1.1077	10	0.87932	D	0	-4.7361	18.491	0.90848	0.0:0.0:1.0:0.0	.	181;173	G3V518;Q96B86	.;RGMA_HUMAN	I	157;157;173;157;64;181	ENSP00000442498:T157I;ENSP00000404442:T157I;ENSP00000330005:T173I;ENSP00000440025:T157I;ENSP00000442546:T64I;ENSP00000452126:T181I	ENSP00000330005:T173I	T	-	2	0	RGMA	91396354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.815000	0.99349	2.479000	0.83701	0.561000	0.74099	ACT		0.602	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		4	22	0	0	0	1	0	4	22				
SPON2	10417	broad.mit.edu	37	4	1164338	1164338	+	Silent	SNP	C	C	T	rs545107781		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1164338C>T	ENST00000290902.5	-	5	995	c.663G>A	c.(661-663)ccG>ccA	p.P221P	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Silent_p.P221P	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	221	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AGGAGTTGGCCGGGTGGCTGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17824	0.0		0.0	False		,,,				2504	0.001					ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(661-663)ccG>ccA		spondin 2, extracellular matrix protein							90.0	93.0	92.0					4																	1164338		2202	4300	6502	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1164338C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.663G>A	4.37:g.1164338C>T						SPON2_ENST00000431380.1_Silent_p.P221P	p.P221P	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	995	-			221			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.663G>A	CCDS3347.1																																																																																				0.652	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			4	26	0	0	0	1	0	4	26				
TMPRSS6	164656	broad.mit.edu	37	22	37480819	37480819	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37480819G>A	ENST00000346753.3	-	9	1177	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P345L|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P354L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P345L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	354	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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						GGGGAAGTACGGGGTGCTGAG	0.647																																						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.(1033-1035)cCg>cTg		transmembrane protease, serine 6																																				SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37480819G>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.1061C>T	22.37:g.37480819G>A	ENSP00000334962:p.Pro354Leu					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P354L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P354L	p.P345L			Q8IU80	TMPS6_HUMAN			9	1174	-			354			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1034C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.973922	0.74246	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	4.52	4.52	0.55395	CUB (4);	0.000000	0.64402	D	0.000001	T	0.57095	0.2030	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.983;0.963	T	0.63839	-0.6546	10	0.66056	D	0.02	.	16.2328	0.82357	0.0:0.0:1.0:0.0	.	354;345;354	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	L	345;354;345;345;16;354	ENSP00000371211:P345L;ENSP00000334962:P354L;ENSP00000385453:P345L;ENSP00000384964:P345L;ENSP00000392433:P16L;ENSP00000397691:P354L	ENSP00000334962:P354L	P	-	2	0	TMPRSS6	35810765	1.000000	0.71417	0.518000	0.27811	0.623000	0.37688	8.359000	0.90093	2.056000	0.61249	0.558000	0.71614	CCG		0.647	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		3	4	0	0	0	1	0	3	4				
SPTB	6710	broad.mit.edu	37	14	65260131	65260131	+	Silent	SNP	G	G	A	rs200908449		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65260131G>A	ENST00000389721.5	-	13	2282	c.2250C>T	c.(2248-2250)ggC>ggT	p.G750G	SPTB_ENST00000542895.1_Silent_p.G750G|SPTB_ENST00000389720.3_Silent_p.G750G|SPTB_ENST00000556626.1_Silent_p.G750G|SPTB_ENST00000389722.3_Silent_p.G750G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	750					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCGCATCGCCCTGGAACT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19645	0.0		0.0	False		,,,				2504	0.001					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2248-2250)ggC>ggT		spectrin, beta, erythrocytic		G	,	0,4406		0,0,2203	46.0	44.0	45.0		2250,2250	-9.4	0.3	14		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	750/2138,750/2329	65260131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260131G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2250C>T	14.37:g.65260131G>A						SPTB_ENST00000556626.1_Silent_p.G750G|SPTB_ENST00000389720.3_Silent_p.G750G|SPTB_ENST00000389721.5_Silent_p.G750G|SPTB_ENST00000542895.1_Silent_p.G750G	p.G750G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2303	-		all_lung(585;4.15e-09)	750					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2250C>T	CCDS32100.1																																																																																				0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	28	0	0	0	1	0	5	28				
DYRK1A	1859	broad.mit.edu	37	21	38862610	38862610	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38862610G>A	ENST00000398960.2	+	6	873	c.798G>A	c.(796-798)gcG>gcA	p.A266A	DYRK1A_ENST00000339659.4_Silent_p.A257A|DYRK1A_ENST00000398956.2_Silent_p.A266A|DYRK1A_ENST00000321219.8_Silent_p.A266A|DYRK1A_ENST00000338785.3_Silent_p.A266A|DYRK1A_ENST00000451934.1_Silent_p.A266A|DYRK1A_ENST00000455387.2_Silent_p.A38A	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			A -> V (in Ref. 6; CAA05059). {ECO:0000305}.	circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAAGTTTGCGCAACAGATGT	0.413																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(769-771)gcG>gcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							101.0	93.0	96.0					21																	38862610		2203	4299	6502	SO:0001819	synonymous_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38862610G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.798G>A	21.37:g.38862610G>A						DYRK1A_ENST00000451934.1_Silent_p.A266A|DYRK1A_ENST00000398956.2_Silent_p.A266A|DYRK1A_ENST00000455387.2_Silent_p.A38A|DYRK1A_ENST00000338785.3_Silent_p.A266A|DYRK1A_ENST00000321219.8_Silent_p.A266A|DYRK1A_ENST00000398960.2_Silent_p.A266A	p.A257A	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			6	2241	+			266			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	ENST00000398960.2	37	c.771G>A	CCDS42925.1																																																																																				0.413	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		9	30	0	0	0	1	0	9	30				
IL18RAP	8807	broad.mit.edu	37	2	103040431	103040431	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103040431C>T	ENST00000264260.2	+	4	820	c.231C>T	c.(229-231)aaC>aaT	p.N77N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	77					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						TGGGTAGTAACGACCTATCTG	0.438																																						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.(229-231)aaC>aaT		interleukin 18 receptor accessory protein							90.0	82.0	85.0					2																	103040431		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040431C>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.231C>T	2.37:g.103040431C>T						IL18RAP_ENST00000409369.1_Intron	p.N77N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			4	820	+			77					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.231C>T	CCDS2061.1																																																																																				0.438	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		6	25	0	0	0	1	0	6	25				
UGGT2	55757	broad.mit.edu	37	13	96543151	96543151	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:96543151T>C	ENST00000376747.3	-	25	2993	c.2923A>G	c.(2923-2925)Aca>Gca	p.T975A		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	975					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTCTCTTGTTAATGGATCA	0.279																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2923-2925)Aca>Gca		UDP-glucose glycoprotein glucosyltransferase 2							79.0	76.0	77.0					13																	96543151		2202	4296	6498	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96543151T>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2923A>G	13.37:g.96543151T>C	ENSP00000365938:p.Thr975Ala						p.T975A	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			25	2993	-			975					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2923A>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564146	0.65651	.	.	ENSG00000102595	ENST00000376747	T	0.29917	1.55	5.46	4.2	0.49525	.	0.099373	0.64402	D	0.000002	T	0.52677	0.1749	M	0.87180	2.865	0.80722	D	1	D;P	0.64830	0.994;0.74	P;P	0.59056	0.851;0.588	T	0.60131	-0.7323	10	0.72032	D	0.01	-20.1905	9.8373	0.40977	0.2629:0.0:0.0:0.7371	.	975;975	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	A	975	ENSP00000365938:T975A	ENSP00000365938:T975A	T	-	1	0	UGGT2	95341152	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.536000	0.53582	2.202000	0.70862	0.533000	0.62120	ACA		0.279	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		3	19	0	0	0	1	0	3	19				
FGGY	55277	broad.mit.edu	37	1	60073488	60073488	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:60073488C>T	ENST00000303721.7	+	9	1091	c.917C>T	c.(916-918)cCg>cTg	p.P306L	FGGY_ENST00000371212.1_Missense_Mutation_p.P218L|FGGY_ENST00000371218.4_Missense_Mutation_p.P306L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Missense_Mutation_p.P7L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	306					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGCAAAGACCCGATTTTTGTA	0.458																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(916-918)cCg>cTg		FGGY carbohydrate kinase domain containing							113.0	117.0	116.0					1																	60073488		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60073488C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.917C>T	1.37:g.60073488C>T	ENSP00000305922:p.Pro306Leu					FGGY_ENST00000371210.1_Missense_Mutation_p.P7L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.P218L|FGGY_ENST00000303721.7_Missense_Mutation_p.P306L	p.P306L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			9	1101	+	all_cancers(7;7.36e-05)		306					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.917C>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798632	0.90538	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.65	5.65	0.86999	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	L	0.58302	1.8	0.80722	D	1	D;P;P;D	0.61697	0.99;0.955;0.937;0.969	P;P;P;P	0.59546	0.859;0.532;0.614;0.745	D	0.90895	0.4764	9	.	.	.	-13.4029	18.6545	0.91445	0.0:1.0:0.0:0.0	.	306;218;306;306	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	306;306;218;7	ENSP00000360262:P306L;ENSP00000305922:P306L;ENSP00000360256:P218L;ENSP00000360254:P7L	.	P	+	2	0	FGGY	59846076	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	CCG		0.458	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		8	33	0	0	0	1	0	8	33				
TMPRSS11D	9407	broad.mit.edu	37	4	68691458	68691458	+	Missense_Mutation	SNP	C	C	T	rs377401556		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:68691458C>T	ENST00000283916.6	-	9	1185	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A246T|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	363	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCTGACATGCGTCCACTCCA	0.403																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1087-1089)Gca>Aca		transmembrane protease, serine 11D		C	THR/ALA	0,4406		0,0,2203	128.0	107.0	114.0		1087	4.9	1.0	4		114	1,8597	1.2+/-3.3	0,1,4298	no	missense	TMPRSS11D	NM_004262.2	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	363/419	68691458	1,13003	2203	4299	6502	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68691458C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1087G>A	4.37:g.68691458C>T	ENSP00000283916:p.Ala363Thr					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A246T	p.A363T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			9	1185	-			363			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.1087G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173933	0.57692	0.0	1.16E-4	ENSG00000153802	ENST00000283916;ENST00000545541	T;T	0.59502	0.26;0.26	5.78	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.104926	0.42420	D	0.000717	T	0.57932	0.2087	N	0.12182	0.205	0.35990	D	0.836626	D	0.89917	1.0	D	0.91635	0.999	T	0.67879	-0.5556	10	0.48119	T	0.1	.	11.6326	0.51185	0.3232:0.6768:0.0:0.0	.	363	O60235	TM11D_HUMAN	T	363;246	ENSP00000283916:A363T;ENSP00000442045:A246T	ENSP00000283916:A363T	A	-	1	0	TMPRSS11D	68374053	0.998000	0.40836	0.997000	0.53966	0.404000	0.30871	0.737000	0.26144	1.403000	0.46800	0.555000	0.69702	GCA		0.403	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		4	21	0	0	0	1	0	4	21				
CLCNKB	1188	broad.mit.edu	37	1	16378897	16378897	+	Missense_Mutation	SNP	G	G	A	rs192283350	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16378897G>A	ENST00000375679.4	+	15	1724	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R369H	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	538					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)		ATTCTGGGCCGCAACATCGGG	0.597													G|||	2	0.000399361	0.0	0.0014	5008	,	,		21908	0.001		0.0	False		,,,				2504	0.0					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	GRCh37	CM082571	CLCNKB	M	rs192283350	c.(1612-1614)cGc>cAc		chloride channel, voltage-sensitive Kb							35.0	37.0	36.0					1																	16378897		2203	4296	6499	SO:0001583	missense	1188							g.chr1:16378897G>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.1613G>A	1.37:g.16378897G>A	ENSP00000364831:p.Arg538His					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R369H	p.R538H	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)	15	1724	+		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	Missense_Mutation	SNP	ENST00000375679.4	37	c.1613G>A	CCDS168.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	14.96	2.691595	0.48097	.	.	ENSG00000184908	ENST00000375668;ENST00000375679;ENST00000331579;ENST00000375667;ENST00000431772	D;D;T	0.86164	-1.86;-2.08;-0.15	4.04	4.04	0.47022	.	0.305199	0.31210	N	0.008051	D	0.90906	0.7142	M	0.68317	2.08	0.24442	N	0.994529	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.858	D	0.84920	0.0853	10	0.54805	T	0.06	.	14.9512	0.71077	0.0:0.0:1.0:0.0	.	369;538	Q5T5Q7;P51801	.;CLCKB_HUMAN	H	36;538;410;369;27	ENSP00000364831:R538H;ENSP00000364819:R369H;ENSP00000389344:R27H	ENSP00000332055:R410H	R	+	2	0	CLCNKB	16251484	1.000000	0.71417	0.159000	0.22649	0.017000	0.09413	8.759000	0.91667	2.089000	0.63090	0.555000	0.69702	CGC		0.597	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		8	46	0	0	0	1	0	8	46				
LRP4	4038	broad.mit.edu	37	11	46917787	46917787	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:46917787C>A	ENST00000378623.1	-	9	1264	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	341	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTTTCGTCGCTGTTGTCACC	0.597																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1021-1023)aGc>aTc		low density lipoprotein receptor-related protein 4							92.0	89.0	90.0					11																	46917787		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917787C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1022G>T	11.37:g.46917787C>A	ENSP00000367888:p.Ser341Ile						p.S341I	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1264	-			341			LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1022G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878623	0.72294	.	.	ENSG00000134569	ENST00000378623	D	0.97850	-4.57	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.049992	0.85682	D	0.000000	D	0.98012	0.9345	M	0.91300	3.195	0.58432	D	0.999999	P	0.46784	0.884	B	0.41619	0.361	D	0.99113	1.0847	10	0.87932	D	0	.	20.4123	0.99019	0.0:1.0:0.0:0.0	.	341	O75096	LRP4_HUMAN	I	341	ENSP00000367888:S341I	ENSP00000367888:S341I	S	-	2	0	LRP4	46874363	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	6.143000	0.71756	2.824000	0.97209	0.655000	0.94253	AGC		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		17	71	1	0	3.99206e-14	1	4.11663e-14	17	71				
TUBB4A	10382	broad.mit.edu	37	19	6496044	6496044	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:6496044G>A	ENST00000264071.2	-	4	837	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R156C|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	156					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AACTCCTCGCGGATCTTACTG	0.637																																						ENST00000264071.2																			0											c.(466-468)Cgc>Tgc		tubulin, beta 4A class IVa							153.0	123.0	133.0					19																	6496044		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496044G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.466C>T	19.37:g.6496044G>A	ENSP00000264071:p.Arg156Cys					TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R156C	p.R156C			P04350	TBB4_HUMAN			4	837	-			156					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.466C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655409	0.47467	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	T;T	0.72282	-0.64;-0.64	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	D	0.88890	0.6560	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92846	0.6293	10	0.87932	D	0	.	14.999	0.71455	0.0:0.0:1.0:0.0	.	156	P04350	TBB4A_HUMAN	C	156	ENSP00000264071:R156C;ENSP00000443590:R156C	ENSP00000264071:R156C	R	-	1	0	TUBB4	6447044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.426000	0.73374	1.795000	0.52594	0.549000	0.68633	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		22	81	0	0	0	1	0	22	81				
RHOC	389	broad.mit.edu	37	1	113246352	113246352	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:113246352C>T	ENST00000285735.2	-	3	1279	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	RHOC_ENST00000369637.1_Missense_Mutation_p.V24I|RHOC_ENST00000339083.7_Missense_Mutation_p.V24I|RHOC_ENST00000369636.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.R187H|RHOC_ENST00000369642.3_Missense_Mutation_p.V24I|RHOC_ENST00000369632.2_Missense_Mutation_p.V24I|RHOC_ENST00000369633.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369638.2_Missense_Mutation_p.V24I			P08134	RHOC_HUMAN	ras homolog family member C	24					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	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)		TTGCTGAAGACGATGAGGAGG	0.537																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(70-72)Gtc>Atc		ras homolog family member C							92.0	71.0	79.0					1																	113246352		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113246352C>T	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.70G>A	1.37:g.113246352C>T	ENSP00000285735:p.Val24Ile					RHOC_ENST00000369642.3_Missense_Mutation_p.V24I|RHOC_ENST00000369633.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.R187H|RHOC_ENST00000339083.7_Missense_Mutation_p.V24I|RHOC_ENST00000369636.2_Missense_Mutation_p.V24I|RHOC_ENST00000369632.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369637.1_Missense_Mutation_p.V24I|RHOC_ENST00000369638.2_Missense_Mutation_p.V24I	p.V24I			P08134	RHOC_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)	3	1279	-	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)	24					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.70G>A	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491872	0.84962	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.000000	0.44902	D	0.000409	T	0.65217	0.2670	M	0.84219	2.685	0.80722	D	1	B	0.12013	0.005	B	0.26864	0.074	T	0.68093	-0.5500	10	0.72032	D	0.01	-12.4432	18.4903	0.90844	0.0:1.0:0.0:0.0	.	24	P08134	RHOC_HUMAN	I	24;24;24;24;24;24;24;24;61;24;24;24;24	ENSP00000345236:V24I;ENSP00000358647:V24I;ENSP00000358656:V24I;ENSP00000285735:V24I;ENSP00000358652:V24I;ENSP00000358651:V24I;ENSP00000358650:V24I;ENSP00000358646:V24I;ENSP00000434877:V61I;ENSP00000390823:V24I;ENSP00000436240:V24I;ENSP00000399424:V24I;ENSP00000395791:V24I	ENSP00000285735:V24I	V	-	1	0	RHOC	113047875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.468000	0.83385	0.462000	0.41574	GTC		0.537	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		4	20	0	0	0	1	0	4	20				
KPNA5	3841	broad.mit.edu	37	6	117047719	117047719	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:117047719G>A	ENST00000368564.1	+	12	1335	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	KPNA5_ENST00000356348.1_Missense_Mutation_p.R396H			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	393	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GCAGAGTTTCGTACCAGAAAA	0.343																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1186-1188)cGt>cAt		karyopherin alpha 5 (importin alpha 6)							87.0	91.0	89.0					6																	117047719		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117047719G>A	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1187G>A	6.37:g.117047719G>A	ENSP00000357552:p.Arg396His					KPNA5_ENST00000356348.1_Missense_Mutation_p.R396H	p.R396H			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	12	1335	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	393			NLS binding site (minor) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.1187G>A	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839022	0.91117	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.69806	-0.43;-0.43	5.53	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.069229	0.64402	D	0.000019	T	0.60650	0.2285	L	0.39514	1.22	0.44055	D	0.996792	D	0.55800	0.973	P	0.54759	0.76	T	0.66846	-0.5820	10	0.66056	D	0.02	.	14.136	0.65289	0.0724:0.0:0.9276:0.0	.	393	O15131	IMA5_HUMAN	H	396	ENSP00000357552:R396H;ENSP00000348704:R396H	ENSP00000348704:R396H	R	+	2	0	KPNA5	117154412	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.462000	0.97649	1.342000	0.45619	0.485000	0.47835	CGT		0.343	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		4	31	0	0	0	1	0	4	31				
USP6	9098	broad.mit.edu	37	17	5041502	5041502	+	Missense_Mutation	SNP	G	G	A	rs201324904		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:5041502G>A	ENST00000574788.1	+	21	3242	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.V338M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	338					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.V338M(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGATGACACCGTGCTCAAGCA	0.582			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								G|||	1	0.000199681	0.0	0.0014	5008	,	,		20107	0.0		0.0	False		,,,				2504	0.0					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		2	Substitution - Missense(2)	p.V338M(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1012-1014)Gtg>Atg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							142.0	140.0	141.0					17																	5041502		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5041502G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1012G>A	17.37:g.5041502G>A	ENSP00000460380:p.Val338Met					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000332776.4_Missense_Mutation_p.V338M	p.V338M			P35125	UBP6_HUMAN			21	3242	+			338					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1012G>A	CCDS11069.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.68	2.607374	0.46527	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.24723	1.84;1.84	0.862	0.862	0.19056	Rab-GAP/TBC domain (1);	0.106620	0.64402	D	0.000006	T	0.33265	0.0857	L	0.52364	1.645	0.80722	D	1	D	0.65815	0.995	P	0.60068	0.868	T	0.06734	-1.0810	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	338	P35125	UBP6_HUMAN	M	338	ENSP00000328010:V338M;ENSP00000250066:V338M	ENSP00000250066:V338M	V	+	1	0	USP6	4982226	0.003000	0.15002	0.116000	0.21606	0.117000	0.20001	0.353000	0.20130	0.132000	0.18615	0.134000	0.15878	GTG		0.582	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		30	131	0	0	0	1	0	30	131				
PCDHGB3	56102	broad.mit.edu	37	5	140751254	140751254	+	Silent	SNP	G	G	A	rs201325462	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140751254G>A	ENST00000576222.1	+	1	1424	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	431	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)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATCCACCGCTCTCCTCCA	0.527																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1291-1293)ccG>ccA									135.0	140.0	138.0					5																	140751254		2177	4271	6448	SO:0001819	synonymous_variant	0							g.chr5:140751254G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1293G>A	5.37:g.140751254G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P431P	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1424	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1293G>A	CCDS58980.1																																																																																				0.527	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		40	118	0	0	0	1	0	40	118				
ABCC8	6833	broad.mit.edu	37	11	17438497	17438497	+	Silent	SNP	G	G	A	rs200708414	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:17438497G>A	ENST00000389817.3	-	17	2303	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	ABCC8_ENST00000302539.4_Silent_p.S746S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	745	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTCCTATCTCGCTGTCAGGAA	0.567													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17211	0.001		0.0	False		,,,				2504	0.0					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.(2236-2238)agC>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						112.0	84.0	93.0					11																	17438497		2200	4293	6493	SO:0001819	synonymous_variant	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.chr11:17438497G>A	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.2235C>T	11.37:g.17438497G>A						ABCC8_ENST00000389817.3_Silent_p.S745S	p.S746S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	17	2363	-			745			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2238C>T	CCDS31437.1																																																																																				0.567	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		3	21	0	0	0	1	0	3	21				
PLXNB3	5365	broad.mit.edu	37	X	153033811	153033811	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153033811C>T	ENST00000361971.5	+	4	1308	c.1194C>T	c.(1192-1194)agC>agT	p.S398S	PLXNB3_ENST00000538282.1_Silent_p.S51S|PLXNB3_ENST00000538966.1_Silent_p.S421S|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.S51S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	398	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	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)					AGCCGGTCAGCGCCGTGGCAG	0.692													C|||	2	0.000529801	0.0008	0.0	3775	,	,		11837	0.0		0.0	False		,,,				2504	0.001					ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1261-1263)agC>agT		plexin B3							33.0	34.0	33.0					X																	153033811		2199	4296	6495	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033811C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1194C>T	X.37:g.153033811C>T						PLXNB3_ENST00000538282.1_Silent_p.S51S|PLXNB3_ENST00000361971.5_Silent_p.S398S|PLXNB3_ENST00000538776.1_Silent_p.S51S|PLXNB3_ENST00000538543.1_Intron	p.S421S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			5	1534	+	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)		398			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1263C>T	CCDS14729.1																																																																																				0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			6	22	0	0	0	1	0	6	22				
AGRN	375790	broad.mit.edu	37	1	986959	986959	+	Missense_Mutation	SNP	G	G	A	rs377622440		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:986959G>A	ENST00000379370.2	+	32	5547	c.5497G>A	c.(5497-5499)Gtc>Atc	p.V1833I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1837	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGCCTCCTGCGTCCCGAGGGA	0.706																																						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.(5497-5499)Gtc>Atc		agrin		G	ILE/VAL	0,4386		0,0,2193	14.0	15.0	15.0		5497	-7.3	0.0	1		15	1,8583		0,1,4291	no	missense	AGRN	NM_198576.3	29	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	benign	1833/2046	986959	1,12969	2193	4292	6485	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.chr1:986959G>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.5497G>A	1.37:g.986959G>A	ENSP00000368678:p.Val1833Ile						p.V1833I	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)	32	5547	+	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)	1833			EGF-like 4.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5497G>A	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.998|0.998	-0.691856|-0.691856	0.03303|0.03303	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.92446	.|-3.04	4.96|4.96	-7.34|-7.34	0.01427|0.01427	.|Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|1.705140	.|0.03476	.|N	.|0.214372	D|D	0.82522|0.82522	0.5055|0.5055	N|N	0.20610|0.20610	0.595|0.595	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.69997|0.69997	-0.4993|-0.4993	5|10	.|0.33940	.|T	.|0.23	-7.2887|-7.2887	6.4608|6.4608	0.21956|0.21956	0.2294:0.1655:0.5114:0.0937|0.2294:0.1655:0.5114:0.0937	.|.	.|1833	.|O00468	.|AGRIN_HUMAN	H|I	135|1833;176	.|ENSP00000368678:V1833I	.|ENSP00000368671:V176I	R|V	+|+	2|1	0|0	AGRN|AGRN	976822|976822	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.037000|0.037000	0.13140|0.13140	-1.260000|-1.260000	0.02858|0.02858	-1.324000|-1.324000	0.02272|0.02272	-0.232000|-0.232000	0.12228|0.12228	CGT|GTC		0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		3	10	0	0	0	1	0	3	10				
KCTD17	79734	broad.mit.edu	37	22	37455445	37455445	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37455445C>T	ENST00000403888.3	+	5	601	c.600C>T	c.(598-600)aaC>aaT	p.N200N	KCTD17_ENST00000402077.3_Silent_p.N200N	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	200					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GCACCCCAAACGGGCTGAGCT	0.627																																						ENST00000403888.3																			0				NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(598-600)aaC>aaT		potassium channel tetramerization domain containing 17							82.0	80.0	81.0					22																	37455445		2203	4300	6503	SO:0001819	synonymous_variant	79734					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr22:37455445C>T	BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.600C>T	22.37:g.37455445C>T						KCTD17_ENST00000402077.3_Silent_p.N200N	p.N200N			Q8N5Z5	KCD17_HUMAN			5	601	+			200					B0QYA9|B0QYB0|O95517	Silent	SNP	ENST00000403888.3	37	c.600C>T		.	.	.	.	.	.	.	.	.	.	C	0.298	-0.975988	0.02215	.	.	ENSG00000100379	ENST00000456470	.	.	.	4.18	-8.36	0.00980	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.33457	D	0.584459	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	-2.408	10.9113	0.47110	0.1119:0.5936:0.0:0.2945	.	.	.	.	M	155	.	.	T	+	2	0	KCTD17	35785391	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-1.594000	0.02094	-2.195000	0.00752	-1.327000	0.01280	ACG		0.627	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		17	90	0	0	0	1	0	17	90				
CAPN15	6650	broad.mit.edu	37	16	602413	602413	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:602413C>T	ENST00000219611.2	+	11	2983	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	874					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCACAGTAAGCGCGCGGTCAA	0.692																																						ENST00000219611.2																			0											c.(2620-2622)Cgc>Tgc		calpain 15							16.0	21.0	20.0					16																	602413		2156	4261	6417	SO:0001583	missense	6650							g.chr16:602413C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2620C>T	16.37:g.602413C>T	ENSP00000219611:p.Arg874Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.R874C	NM_005632.2	NP_005623.1					11	2983	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2620C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	14.93	2.681774	0.47991	.	.	ENSG00000103326	ENST00000219611	D	0.90844	-2.74	5.48	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92968	0.6395	10	0.62326	D	0.03	.	8.9798	0.35957	0.2962:0.5601:0.1437:0.0	.	874	O75808	CAN15_HUMAN	C	874	ENSP00000219611:R874C	ENSP00000219611:R874C	R	+	1	0	SOLH	542414	1.000000	0.71417	0.966000	0.40874	0.549000	0.35272	1.687000	0.37680	1.294000	0.44707	0.556000	0.70494	CGC		0.692	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		4	29	0	0	0	1	0	4	29				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	34	0	0	0	1	0	4	34				
SLC27A4	10999	broad.mit.edu	37	9	131115025	131115025	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131115025C>T	ENST00000300456.4	+	7	1103	c.986C>T	c.(985-987)aCg>aTg	p.T329M	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	329					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						TACAACTGCACGGTGAGCGAG	0.567																																					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.e7+1		solute carrier family 27 (fatty acid transporter), member 4							105.0	84.0	92.0					9																	131115025		2203	4300	6503	SO:0001630	splice_region_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131115025C>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.987+1C>T	9.37:g.131115025C>T						SLC27A4_ENST00000372870.1_Intron	p.T329_splice	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			7	1103	+			329					A8K2F7|O95186|Q96G53	Splice_Site	SNP	ENST00000300456.4	37	c.987_splice	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609558	0.87258	.	.	ENSG00000167114	ENST00000300456	T	0.61859	0.07	5.05	5.05	0.67936	AMP-dependent synthetase/ligase (1);	0.095518	0.64402	D	0.000001	D	0.85035	0.5605	H	0.98238	4.18	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.90663	0.4592	10	0.87932	D	0	-3.5708	17.6481	0.88154	0.0:1.0:0.0:0.0	.	329	Q6P1M0	S27A4_HUMAN	M	329	ENSP00000300456:T329M	ENSP00000300456:T329M	T	+	2	0	SLC27A4	130154846	1.000000	0.71417	0.988000	0.46212	0.811000	0.45836	7.320000	0.79064	2.635000	0.89317	0.549000	0.68633	ACG		0.567	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2		Missense_Mutation	4	41	0	0	0	1	0	4	41				
NCKAP5	344148	broad.mit.edu	37	2	133540274	133540274	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:133540274C>T	ENST00000409261.1	-	14	4483	c.4110G>A	c.(4108-4110)ttG>ttA	p.L1370L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1370L|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1370										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						GAGGGATCCTCAAAGGCAACT	0.622																																						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.(4108-4110)ttG>ttA		NCK-associated protein 5							48.0	50.0	49.0					2																	133540274		1952	4138	6090	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540274C>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.4110G>A	2.37:g.133540274C>T						NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1370L|NCKAP5_ENST00000405974.3_Intron	p.L1370L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4483	-			1370					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4110G>A	CCDS46418.1																																																																																				0.622	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		12	48	0	0	0	1	0	12	48				
KPNA1	3836	broad.mit.edu	37	3	122160929	122160929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122160929G>A	ENST00000344337.6	-	10	1128	c.952C>T	c.(952-954)Cga>Tga	p.R318*	RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	318	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CCCACAGCTCGCAAAGCAGGA	0.353																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(952-954)Cga>Tga		karyopherin alpha 1 (importin alpha 5)							176.0	182.0	180.0					3																	122160929		2203	4300	6503	SO:0001587	stop_gained	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122160929G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.952C>T	3.37:g.122160929G>A	ENSP00000343701:p.Arg318*					KPNA1_ENST00000466923.1_5'UTR	p.R318*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	10	1128	-			318			Binding to RAG1.|NLS binding site (minor) (By similarity).		D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.952C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431897	0.96150	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7106	17.8521	0.88750	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000343701:R318X	R	-	1	2	KPNA1	123643619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.344000	0.59354	2.692000	0.91855	0.655000	0.94253	CGA		0.353	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		13	111	0	0	0	1	0	13	111				
EFEMP2	30008	broad.mit.edu	37	11	65635813	65635813	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65635813G>A	ENST00000307998.6	-	9	1157	c.927C>T	c.(925-927)tgC>tgT	p.C309C	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Silent_p.C309C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	309	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGTCCACGCAGCGGTAGC	0.602																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(925-927)tgC>tgT		EGF containing fibulin-like extracellular matrix protein 2							52.0	45.0	48.0					11																	65635813		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635813G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.927C>T	11.37:g.65635813G>A						EFEMP2_ENST00000528176.1_Silent_p.C309C	p.C309C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	9	1157	-			309			EGF-like 6; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.927C>T	CCDS8116.1																																																																																				0.602	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		7	30	0	0	0	1	0	7	30				
PTPN14	5784	broad.mit.edu	37	1	214556764	214556764	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:214556764C>T	ENST00000366956.5	-	13	2628	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	812					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTAGTCAGGTCGGGTTCCGAG	0.567																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2434-2436)Gac>Aac		protein tyrosine phosphatase, non-receptor type 14							67.0	72.0	70.0					1																	214556764		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556764C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2434G>A	1.37:g.214556764C>T	ENSP00000355923:p.Asp812Asn					PTPN14_ENST00000543945.1_3'UTR	p.D812N	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2628	-			812					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2434G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439926	0.63067	.	.	ENSG00000152104	ENST00000366956	T	0.74209	-0.82	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87070	0.2159	10	0.48119	T	0.1	.	17.7036	0.88302	0.0:1.0:0.0:0.0	.	812	Q15678	PTN14_HUMAN	N	812	ENSP00000355923:D812N	ENSP00000355923:D812N	D	-	1	0	PTPN14	212623387	1.000000	0.71417	0.996000	0.52242	0.182000	0.23217	7.662000	0.83803	2.176000	0.68965	0.462000	0.41574	GAC		0.567	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	76	0	0	0	1	0	9	76				
TRIP12	9320	broad.mit.edu	37	2	230725184	230725184	+	Intron	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:230725184A>G	ENST00000283943.5	-	3	277				TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Silent_p.S54S|TRIP12_ENST00000543084.1_Silent_p.S54S|TRIP12_ENST00000409677.1_Silent_p.S54S	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGGTGCCTTAGAATTAGATT	0.388																																						ENST00000389044.4																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(160-162)tcT>tcC		thyroid hormone receptor interactor 12							140.0	140.0	140.0					2																	230725184		876	1991	2867	SO:0001627	intron_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230725184A>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.99-894T>C	2.37:g.230725184A>G						TRIP12_ENST00000409677.1_Silent_p.S54S|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Silent_p.S54S|TRIP12_ENST00000283943.5_Intron	p.S54S			Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	330	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	34					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.162T>C	CCDS33391.1																																																																																				0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	56	0	0	0	1	0	7	56				
PCDHA8	56140	broad.mit.edu	37	5	140222184	140222184	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140222184C>T	ENST00000531613.1	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T426T|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	426	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(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)			TGGTGGTAACCGCGCGGGACG	0.637																																						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.(1276-1278)acC>acT									87.0	79.0	82.0					5																	140222184		2195	4264	6459	SO:0001819	synonymous_variant	0							g.chr5:140222184C>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.1278C>T	5.37:g.140222184C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.T426T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.T426T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1278	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1278C>T	CCDS54919.1																																																																																				0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		22	135	0	0	0	1	0	22	135				
HIF1A	3091	broad.mit.edu	37	14	62200950	62200950	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:62200950T>C	ENST00000337138.4	+	8	1240	c.975T>C	c.(973-975)taT>taC	p.Y325Y	HIF1A_ENST00000394997.1_Silent_p.Y326Y|HIF1A_ENST00000539097.1_Silent_p.Y349Y|HIF1A_ENST00000557538.1_Silent_p.Y266Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Silent_p.Y325Y|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	325	Interaction with TSGA10. {ECO:0000250}.|PAC.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|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, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTGTCATATATAACACCAAGA	0.383																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(976-978)taT>taC		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							118.0	105.0	109.0					14																	62200950		2203	4300	6503	SO:0001819	synonymous_variant	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62200950T>C	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.975T>C	14.37:g.62200950T>C						HIF1A_ENST00000539097.1_Silent_p.Y349Y|HIF1A_ENST00000337138.4_Silent_p.Y325Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Silent_p.Y325Y|HIF1A_ENST00000557538.1_Silent_p.Y266Y	p.Y326Y			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	8	1243	+			325			Interaction with TSGA10 (By similarity).|PAC.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.978T>C	CCDS9753.1																																																																																				0.383	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		8	31	0	0	0	1	0	8	31				
ANAPC5	51433	broad.mit.edu	37	12	121747516	121747516	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:121747516T>G	ENST00000261819.3	-	16	2165	c.2044A>C	c.(2044-2046)Aag>Cag	p.K682Q	ANAPC5_ENST00000535482.1_Missense_Mutation_p.K348Q|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.K669Q|ANAPC5_ENST00000344395.4_Missense_Mutation_p.K570Q|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K570Q	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	682					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCTTTCTTCGGCTGATCG	0.483																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2044-2046)Aag>Cag		anaphase promoting complex subunit 5							72.0	70.0	71.0					12																	121747516		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121747516T>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2044A>C	12.37:g.121747516T>G	ENSP00000261819:p.Lys682Gln					ANAPC5_ENST00000541887.1_Missense_Mutation_p.K669Q|ANAPC5_ENST00000535482.1_Missense_Mutation_p.K348Q|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K570Q|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.K570Q	p.K682Q	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			16	2165	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		682					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2044A>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	T	7.371	0.626918	0.14257	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.75	4.59	0.56863	Tetratricopeptide-like helical (1);	0.377576	0.32386	N	0.006168	T	0.61451	0.2348	L	0.31664	0.95	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.53394	-0.8445	10	0.23891	T	0.37	.	11.507	0.50472	0.1344:0.0:0.0:0.8656	.	348;570;682	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	Q	570;669;682;348;284;570	ENSP00000415061:K570Q;ENSP00000439875:K669Q;ENSP00000261819:K682Q;ENSP00000438754:K348Q;ENSP00000343787:K570Q	ENSP00000261819:K682Q	K	-	1	0	ANAPC5	120231899	0.999000	0.42202	0.829000	0.32907	0.525000	0.34531	3.270000	0.51600	0.978000	0.38470	-0.509000	0.04479	AAG		0.483	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			12	32	0	0	0	1	0	12	32				
IFT52	51098	broad.mit.edu	37	20	42275596	42275596	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:42275596T>C	ENST00000373030.3	+	14	1417	c.1287T>C	c.(1285-1287)agT>agC	p.S429S	IFT52_ENST00000373039.4_Silent_p.S429S|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	429					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGATACAAGTGAAACAGCAT	0.353																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1285-1287)agT>agC		intraflagellar transport 52 homolog (Chlamydomonas)							172.0	162.0	165.0					20																	42275596		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42275596T>C	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1287T>C	20.37:g.42275596T>C						IFT52_ENST00000373039.4_Silent_p.S429S|IFT52_ENST00000471199.1_3'UTR	p.S429S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	1417	+		Myeloproliferative disorder(115;0.00452)	429					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.1287T>C	CCDS33470.1																																																																																				0.353	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		13	72	0	0	0	1	0	13	72				
LRP8	7804	broad.mit.edu	37	1	53728214	53728214	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:53728214C>A	ENST00000306052.6	-	11	1779	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	LRP8_ENST00000347547.2_Missense_Mutation_p.G390W|LRP8_ENST00000465675.1_Missense_Mutation_p.G113W|LRP8_ENST00000371454.2_Missense_Mutation_p.G560W|LRP8_ENST00000354412.3_Missense_Mutation_p.G431W|LRP8_ENST00000460214.1_5'Flank	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	560					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						GCCTGGTCCCCCCAGTCAGAC	0.502																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1678-1680)Ggg>Tgg		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							206.0	208.0	207.0					1																	53728214		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.chr1:53728214C>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.1678G>T	1.37:g.53728214C>A	ENSP00000303634:p.Gly560Trp					LRP8_ENST00000354412.3_Missense_Mutation_p.G431W|LRP8_ENST00000465675.1_Missense_Mutation_p.G113W|LRP8_ENST00000371454.2_Missense_Mutation_p.G560W|LRP8_ENST00000347547.2_Missense_Mutation_p.G390W	p.G560W	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1779	-			560					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1678G>T	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237877	0.95240	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.98667	0.9553	H	0.98769	4.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99075	1.0835	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	113;431;390;560;560;113	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	W	560;560;113;431;390	ENSP00000303634:G560W;ENSP00000360509:G560W;ENSP00000437009:G113W;ENSP00000346391:G431W;ENSP00000334522:G390W	ENSP00000303634:G560W	G	-	1	0	LRP8	53500802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.580000	0.82523	2.937000	0.99478	0.650000	0.86243	GGG		0.502	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		44	211	1	0	5.73435e-26	1	5.92169e-26	44	211				
CDC42EP1	11135	broad.mit.edu	37	22	37962558	37962558	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37962558G>A	ENST00000249014.4	+	2	622	c.202G>A	c.(202-204)Ggt>Agt	p.G68S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	68					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CAGCAACCACGGTGGCAGCTC	0.677																																						ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(202-204)Ggt>Agt		CDC42 effector protein (Rho GTPase binding) 1							41.0	40.0	40.0					22																	37962558		2203	4300	6503	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962558G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.202G>A	22.37:g.37962558G>A	ENSP00000249014:p.Gly68Ser						p.G68S	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	622	+	Melanoma(58;0.0574)		68					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.202G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383004	0.61845	.	.	ENSG00000128283	ENST00000249014;ENST00000430687	D	0.85339	-1.97	5.22	5.22	0.72569	PAK-box/P21-Rho-binding (2);	0.200767	0.41712	D	0.000821	D	0.87237	0.6127	L	0.34521	1.04	0.47547	D	0.999459	D	0.89917	1.0	D	0.80764	0.994	D	0.84706	0.0731	10	0.25106	T	0.35	-13.8353	14.4111	0.67115	0.0:0.1475:0.8525:0.0	.	68	Q00587	BORG5_HUMAN	S	68	ENSP00000249014:G68S	ENSP00000249014:G68S	G	+	1	0	CDC42EP1	36292504	1.000000	0.71417	0.821000	0.32701	0.718000	0.41266	6.118000	0.71583	2.429000	0.82318	0.563000	0.77884	GGT		0.677	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		7	27	0	0	0	1	0	7	27				
KIAA1549L	25758	broad.mit.edu	37	11	33596305	33596305	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:33596305A>G	ENST00000321505.4	+	9	3577	c.3397A>G	c.(3397-3399)Acc>Gcc	p.T1133A	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1139A|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T1139A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1133						integral component of membrane (GO:0016021)											GACTTACTATACCCTGTACAA	0.542																																						ENST00000321505.4																			0											c.(3397-3399)Acc>Gcc		KIAA1549-like							102.0	106.0	105.0					11																	33596305		2011	4170	6181	SO:0001583	missense	25758							g.chr11:33596305A>G	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.3397A>G	11.37:g.33596305A>G	ENSP00000315295:p.Thr1133Ala					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T1139A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1139A	p.T1133A							9	3577	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3397A>G	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.134454|4.134454	0.77662|0.77662	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.113126	.|0.64402	.|D	.|0.000005	T|T	0.53254|0.53254	0.1785|0.1785	L|L	0.27053|0.27053	0.805|0.805	0.33989|0.33989	D|D	0.648913|0.648913	.|P;D	.|0.89917	.|0.924;1.0	.|P;D	.|0.87578	.|0.807;0.998	T|T	0.65615|0.65615	-0.6125|-0.6125	5|9	.|0.54805	.|T	.|0.06	-24.4943|-24.4943	9.9511|9.9511	0.41638|0.41638	0.9243:0.0:0.0757:0.0|0.9243:0.0:0.0757:0.0	.|.	.|1139;1139	.|E9PAT2;Q6ZVL6-2	.|.;.	M|A	530|1133;1139;1139;972	.|.	.|ENSP00000265654:T1139A	I|T	+|+	3|1	3|0	C11orf41|C11orf41	33552881|33552881	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	6.900000|6.900000	0.75687|0.75687	2.078000|2.078000	0.62432|0.62432	0.533000|0.533000	0.62120|0.62120	ATA|ACC		0.542	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		10	64	0	0	0	1	0	10	64				
DPP3	10072	broad.mit.edu	37	11	66260244	66260244	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66260244G>A	ENST00000360510.2	+	10	1111	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	DPP3_ENST00000530165.1_Missense_Mutation_p.S319N|DPP3_ENST00000532677.1_Missense_Mutation_p.S368N|DPP3_ENST00000453114.1_Missense_Mutation_p.S349N|DPP3_ENST00000541961.1_Missense_Mutation_p.S349N|DPP3_ENST00000531863.1_Missense_Mutation_p.S369N|DPP3_ENST00000533799.1_3'UTR			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	349					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTGGCGAGCGCAGAGCAG	0.597																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1102-1104)aGc>aAc		dipeptidyl-peptidase 3							95.0	89.0	91.0					11																	66260244		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260244G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1046G>A	11.37:g.66260244G>A	ENSP00000353701:p.Ser349Asn					DPP3_ENST00000541961.1_Missense_Mutation_p.S349N|DPP3_ENST00000453114.1_Missense_Mutation_p.S349N|DPP3_ENST00000530165.1_Missense_Mutation_p.S319N|DPP3_ENST00000360510.2_Missense_Mutation_p.S349N|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.S369N	p.S368N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1504	+			349					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1103G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	4.810	0.150585	0.09185	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.41	5.41	0.78517	.	0.197429	0.56097	D	0.000037	T	0.14657	0.0354	L	0.31207	0.915	0.22728	N	0.998806	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.003	T	0.20207	-1.0282	10	0.13853	T	0.58	.	11.7591	0.51892	0.0:0.0:0.8242:0.1758	.	368;349	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	369;368;349;349;349;319;247	ENSP00000432782:S369N;ENSP00000435284:S368N;ENSP00000353701:S349N;ENSP00000389943:S349N;ENSP00000440502:S349N;ENSP00000436941:S319N	ENSP00000353701:S349N	S	+	2	0	DPP3	66016820	1.000000	0.71417	0.104000	0.21259	0.406000	0.30931	5.118000	0.64673	2.535000	0.85469	0.655000	0.94253	AGC		0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			19	98	0	0	0	1	0	19	98				
PIGQ	9091	broad.mit.edu	37	16	630925	630925	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:630925C>T	ENST00000026218.5	+	9	1572	c.1484C>T	c.(1483-1485)cCg>cTg	p.P495L	PIGQ_ENST00000409527.2_Missense_Mutation_p.P495L|PIGQ_ENST00000321878.5_Missense_Mutation_p.P495L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	495	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AACTCCCTGCCGCTGTACTCA	0.657																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1483-1485)cCg>cTg		phosphatidylinositol glycan anchor biosynthesis, class Q							136.0	128.0	131.0					16																	630925		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:630925C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1484C>T	16.37:g.630925C>T	ENSP00000026218:p.Pro495Leu					PIGQ_ENST00000409527.2_Missense_Mutation_p.P495L|PIGQ_ENST00000026218.5_Missense_Mutation_p.P495L	p.P495L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			9	1643	+		Hepatocellular(780;0.00335)	495			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1484C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098648	0.76870	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.80824	-1.42;-1.42;-0.99	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	L	0.32530	0.975	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	0.86615	0.1875	10	0.87932	D	0	-39.212	15.9255	0.79611	0.0:1.0:0.0:0.0	.	509;495;495	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	L	495;495;495;53	ENSP00000386760:P495L;ENSP00000326674:P495L;ENSP00000026218:P495L	ENSP00000026218:P495L	P	+	2	0	PIGQ	570926	1.000000	0.71417	0.945000	0.38365	0.793000	0.44817	7.757000	0.85209	2.443000	0.82685	0.511000	0.50034	CCG		0.657	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		28	148	0	0	0	1	0	28	148				
DCT	1638	broad.mit.edu	37	13	95121166	95121166	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:95121166G>A	ENST00000377028.5	-	2	842	c.429C>T	c.(427-429)ggC>ggT	p.G143G	DCT_ENST00000446125.1_Silent_p.G143G|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	143					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GATCTAAGGCGCCCAAGAACT	0.562																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(427-429)ggC>ggT		dopachrome tautomerase							222.0	221.0	222.0					13																	95121166		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121166G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.429C>T	13.37:g.95121166G>A						DCT_ENST00000446125.1_Silent_p.G143G	p.G143G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	842	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	143					Q09GT4	Silent	SNP	ENST00000377028.5	37	c.429C>T	CCDS9470.1																																																																																				0.562	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			34	143	0	0	0	1	0	34	143				
PRKACG	5568	broad.mit.edu	37	9	71628907	71628907	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:71628907G>A	ENST00000377276.2	-	1	132	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	34					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTTTTGAGCGGGGTTTCCCC	0.627																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(100-102)ccC>ccT		protein kinase, cAMP-dependent, catalytic, gamma							72.0	74.0	74.0					9																	71628907		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628907G>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.102C>T	9.37:g.71628907G>A							p.P34P	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	132	-			34					O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.102C>T	CCDS6625.1																																																																																				0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			10	38	0	0	0	1	0	10	38				
TRPC4AP	26133	broad.mit.edu	37	20	33589834	33589834	+	IGR	SNP	G	G	A	rs374941328		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:33589834G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Silent_p.A1962A			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGACATGGCGGAAACCCAGG	0.672																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(5884-5886)gcG>gcA		myosin, heavy chain 7B, cardiac muscle, beta		G		1,4387	2.1+/-5.4	0,1,2193	44.0	55.0	52.0		5886	-1.8	1.0	20		52	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MYH7B	NM_020884.3		0,2,6489	AA,AG,GG		0.0116,0.0228,0.0154		1962/1984	33589834	2,12980	2194	4297	6491	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33589834G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33589834G>A							p.A1962A	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		42	5978	+			1920					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.5886G>A	CCDS13246.1																																																																																				0.672	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		15	25	0	0	0	1	0	15	25				
HADHB	3032	broad.mit.edu	37	2	26505777	26505777	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:26505777C>T	ENST00000317799.5	+	11	1102	c.998C>T	c.(997-999)cCg>cTg	p.P333L	HADHB_ENST00000537713.1_Missense_Mutation_p.P318L|HADHB_ENST00000405867.3_Missense_Mutation_p.P210L|HADHB_ENST00000545822.1_Missense_Mutation_p.P311L|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	333					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATAAGCCGAAGGCATAT	0.363																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(997-999)cCg>cTg		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							104.0	102.0	102.0					2																	26505777		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26505777C>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.998C>T	2.37:g.26505777C>T	ENSP00000325136:p.Pro333Leu					HADHB_ENST00000405867.3_Missense_Mutation_p.P210L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.P311L|HADHB_ENST00000537713.1_Missense_Mutation_p.P318L	p.P333L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			11	1102	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.998C>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889169	0.91889	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.92752	-1.79;-3.1;-1.79;-1.79	5.95	5.95	0.96441	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.97758	4.07	0.80722	D	1	P;P;D;P	0.89917	0.788;0.646;1.0;0.823	B;B;D;B	0.91635	0.216;0.323;0.999;0.323	D	0.97943	1.0327	10	0.51188	T	0.08	-11.0161	18.9662	0.92697	0.0:1.0:0.0:0.0	.	318;311;210;333	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	333;210;318;311	ENSP00000325136:P333L;ENSP00000385411:P210L;ENSP00000444295:P318L;ENSP00000442665:P311L	ENSP00000325136:P333L	P	+	2	0	HADHB	26359281	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	7.513000	0.81739	2.827000	0.97445	0.650000	0.86243	CCG		0.363	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		6	24	0	0	0	1	0	6	24				
DOCK5	80005	broad.mit.edu	37	8	25174561	25174561	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:25174561G>A	ENST00000276440.7	+	14	1401	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	453	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTGATCCACGGTGAGTTTGA	0.488																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1357-1359)Ggt>Agt		dedicator of cytokinesis 5							185.0	149.0	161.0					8																	25174561		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25174561G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1357G>A	8.37:g.25174561G>A	ENSP00000276440:p.Gly453Ser						p.G453S	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	14	1401	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	453			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1357G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.695598|5.695598	0.96802|0.96802	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.15017|.	2.46|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87200|0.87200	0.6118|0.6118	M|M	0.93638|0.93638	3.44|3.44	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.90163|0.90163	0.4229|0.4229	10|5	0.87932|.	D|.	0|.	.|.	19.4741|19.4741	0.94979|0.94979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	443;228;453|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	S|Q	453|224	ENSP00000276440:G453S|.	ENSP00000276440:G453S|.	G|R	+|+	1|2	0|0	DOCK5|DOCK5	25230478|25230478	1.000000|1.000000	0.71417|0.71417	0.475000|0.475000	0.27278|0.27278	0.981000|0.981000	0.71138|0.71138	9.865000|9.865000	0.99609|0.99609	2.601000|2.601000	0.87937|0.87937	0.650000|0.650000	0.86243|0.86243	GGT|CGG		0.488	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		15	80	0	0	0	1	0	15	80				
VWF	7450	broad.mit.edu	37	12	6125268	6125268	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6125268G>A	ENST00000261405.5	-	31	5696	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1814	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	p.A1814A(1)		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)	TGGACCTGGCGGCATCAGCTG	0.522																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.A1814A(1)	upper_aerodigestive_tract(1)	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.(5440-5442)gcC>gcT		von Willebrand factor	Antihemophilic Factor(DB00025)						44.0	41.0	42.0					12																	6125268		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:6125268G>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.5442C>T	12.37:g.6125268G>A							p.A1814A	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5696	-			1814			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5442C>T	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		11	27	0	0	0	1	0	11	27				
TRIO	7204	broad.mit.edu	37	5	14504649	14504649	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:14504649C>T	ENST00000344204.4	+	55	8583	c.8559C>T	c.(8557-8559)gtC>gtT	p.V2853V	TRIO_ENST00000537187.1_Silent_p.V2677V|TRIO_ENST00000344135.5_Silent_p.V352V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2853V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587																																						ENST00000344204.4																			1	Substitution - coding silent(1)	p.V2853V(1)	large_intestine(1)	NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(8557-8559)gtC>gtT		trio Rho guanine nucleotide exchange factor							179.0	180.0	180.0					5																	14504649		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14504649C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8559C>T	5.37:g.14504649C>T						TRIO_ENST00000344135.5_Silent_p.V352V|TRIO_ENST00000537187.1_Silent_p.V2677V	p.V2853V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			55	8583	+	Lung NSC(4;0.000742)		2853			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.8559C>T	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		43	233	0	0	0	1	0	43	233				
SEMA5B	54437	broad.mit.edu	37	3	122646834	122646834	+	Missense_Mutation	SNP	C	C	T	rs201401928		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122646834C>T	ENST00000357599.3	-	8	1039	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R218Q|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R272Q	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	218	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		CTCAATAGTCCGGCTGAGGTT	0.587																																						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.(652-654)cGg>cAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	70.0	70.0		653	4.8	1.0	3		70	0,8600		0,0,4300	no	missense	SEMA5B	NM_001031702.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	218/1152	122646834	1,13005	2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646834C>T	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.653G>A	3.37:g.122646834C>T	ENSP00000350215:p.Arg218Gln					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R218Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R272Q	p.R218Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	956	-			218			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.653G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	c	12.29	1.893024	0.33442	2.27E-4	0.0	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.64	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056020	0.64402	D	0.000003	T	0.06280	0.0162	N	0.13043	0.29	0.32935	D	0.517572	B;B;B	0.17268	0.021;0.003;0.003	B;B;B	0.12156	0.004;0.007;0.007	T	0.12630	-1.0540	10	0.31617	T	0.26	.	8.1556	0.31167	0.0:0.8204:0.0:0.1796	.	160;218;218	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	218;218;160;272;218	ENSP00000350215:R218Q;ENSP00000195173:R218Q;ENSP00000389588:R272Q;ENSP00000377208:R218Q	ENSP00000195173:R218Q	R	-	2	0	SEMA5B	124129524	0.987000	0.35691	0.995000	0.50966	0.763000	0.43281	1.368000	0.34216	1.628000	0.50416	0.651000	0.88453	CGG		0.587	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		6	41	0	0	0	1	0	6	41				
BICD1	636	broad.mit.edu	37	12	32458878	32458878	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:32458878G>T	ENST00000281474.5	+	4	930	c.827G>T	c.(826-828)gGg>gTg	p.G276V	BICD1_ENST00000548411.1_Missense_Mutation_p.G276V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	276					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCGAGGATGGGAGTGAACCA	0.458																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(826-828)gGg>gTg		bicaudal D homolog 1 (Drosophila)							118.0	110.0	113.0					12																	32458878		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32458878G>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.827G>T	12.37:g.32458878G>T	ENSP00000281474:p.Gly276Val					BICD1_ENST00000281474.5_Missense_Mutation_p.G276V	p.G276V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	1008	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		276					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.827G>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432019	0.25813	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.42513	0.97;0.97	4.59	3.69	0.42338	.	0.643861	0.15430	N	0.262790	T	0.39963	0.1098	L	0.49350	1.555	0.41886	D	0.990343	B;B	0.25904	0.137;0.101	B;B	0.28011	0.085;0.061	T	0.23261	-1.0193	10	0.28530	T	0.3	.	15.0634	0.71973	0.0:0.2674:0.7326:0.0	.	276;276	F8W113;Q96G01	.;BICD1_HUMAN	V	276	ENSP00000446793:G276V;ENSP00000281474:G276V	ENSP00000281474:G276V	G	+	2	0	BICD1	32350145	0.996000	0.38824	0.240000	0.24138	0.946000	0.59487	2.002000	0.40835	1.289000	0.44618	0.650000	0.86243	GGG		0.458	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		7	31	1	0	1.76689e-08	1	1.80665e-08	7	31				
RGS12	6002	broad.mit.edu	37	4	3318863	3318863	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3318863C>T	ENST00000344733.5	+	2	1870	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RGS12_ENST00000543385.1_Silent_p.D322D|RGS12_ENST00000382788.3_Silent_p.D322D|RGS12_ENST00000336727.3_Silent_p.D322D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	322	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAATGACGACGGGAGCCTGG	0.617																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(964-966)gaC>gaT		regulator of G-protein signaling 12							69.0	77.0	74.0					4																	3318863		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318863C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.966C>T	4.37:g.3318863C>T						RGS12_ENST00000382788.3_Silent_p.D322D|RGS12_ENST00000344733.5_Silent_p.D322D|RGS12_ENST00000543385.1_Silent_p.D322D	p.D322D	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1870	+			322			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.966C>T	CCDS3366.1																																																																																				0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		18	108	0	0	0	1	0	18	108				
MED1	5469	broad.mit.edu	37	17	37564024	37564024	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:37564024C>T	ENST00000300651.6	-	17	4673	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CGGATACCATCGTCTGAGCTG	0.448										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4450-4452)Gat>Aat		mediator complex subunit 1							96.0	90.0	92.0					17																	37564024		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564024C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4450G>A	17.37:g.37564024C>T	ENSP00000300651:p.Asp1484Asn	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.D1484N	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4673	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1484					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4450G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128615	0.77549	.	.	ENSG00000125686	ENST00000300651	T	0.51325	0.71	4.88	4.88	0.63580	.	.	.	.	.	T	0.58836	0.2150	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.61133	-0.7124	9	0.56958	D	0.05	-8.6684	18.5898	0.91206	0.0:1.0:0.0:0.0	.	1484	Q15648	MED1_HUMAN	N	1484	ENSP00000300651:D1484N	ENSP00000300651:D1484N	D	-	1	0	MED1	34817550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.578000	0.82498	2.691000	0.91804	0.561000	0.74099	GAT		0.448	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		7	31	0	0	0	1	0	7	31				
SUGP1	57794	broad.mit.edu	37	19	19414533	19414533	+	Splice_Site	SNP	G	G	A	rs199690877	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19414533G>A	ENST00000247001.5	-	5	1009	c.662C>T	c.(661-663)gCa>gTa	p.A221V	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	221					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGATACTCACGCAAATGCTGG	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		19830	0.002		0.0	False		,,,				2504	0.0					ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.e5+1		SURP and G patch domain containing 1							189.0	203.0	198.0					19																	19414533		2203	4300	6503	SO:0001630	splice_region_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414533G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.662+1C>T	19.37:g.19414533G>A						SUGP1_ENST00000585763.1_Intron	p.A221_splice	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			5	1009	-			221					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Splice_Site	SNP	ENST00000247001.5	37	c.662_splice	CCDS12399.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.47	1.946355	0.34377	.	.	ENSG00000105705	ENST00000247001	T	0.47177	0.85	5.02	5.02	0.67125	SWAP/Surp (3);	0.914754	0.09376	N	0.810574	T	0.49575	0.1565	M	0.76938	2.355	0.80722	D	1	B	0.32543	0.375	B	0.25884	0.064	T	0.47032	-0.9148	9	.	.	.	.	12.7768	0.57453	0.0:0.165:0.835:0.0	.	221	Q8IWZ8	SUGP1_HUMAN	V	221	ENSP00000247001:A221V	.	A	-	2	0	SUGP1	19275533	0.998000	0.40836	0.941000	0.38009	0.579000	0.36224	1.306000	0.33505	2.359000	0.80004	0.650000	0.86243	GCA		0.542	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164	Missense_Mutation	41	171	0	0	0	1	0	41	171				
GRIK4	2900	broad.mit.edu	37	11	120744898	120744898	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:120744898G>A	ENST00000527524.2	+	10	1317	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.G344S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	344					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CTGGCAGCACGGCACCAGCCT	0.622																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1030-1032)Ggc>Agc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						41.0	36.0	38.0					11																	120744898		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120744898G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1030G>A	11.37:g.120744898G>A	ENSP00000435648:p.Gly344Ser					GRIK4_ENST00000438375.2_Missense_Mutation_p.G344S|RP11-640N11.2_ENST00000505153.2_RNA	p.G344S			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	10	1317	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	344					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1030G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	g	33	5.238202	0.95240	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.88975	-2.45;-2.45	5.2	4.28	0.50868	Extracellular ligand-binding receptor (1);	0.046581	0.85682	N	0.000000	D	0.94149	0.8123	M	0.81497	2.545	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94770	0.7944	10	0.87932	D	0	.	14.1473	0.65357	0.0731:0.0:0.9269:0.0	.	344;344	A6H8K8;Q16099	.;GRIK4_HUMAN	S	344	ENSP00000435648:G344S;ENSP00000404063:G344S	ENSP00000404063:G344S	G	+	1	0	GRIK4	120250108	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.379000	0.97198	1.333000	0.45449	0.290000	0.19541	GGC		0.622	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		8	19	0	0	0	1	0	8	19				
CFAP53	220136	broad.mit.edu	37	18	47769458	47769458	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47769458T>C	ENST00000398545.4	-	6	1142	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATATTTATGGTATATCTTCTG	0.308																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1024-1026)tAc>tGc		coiled-coil domain containing 11							116.0	113.0	114.0					18																	47769458		1833	4090	5923	SO:0001583	missense	220136							g.chr18:47769458T>C																												ENST00000398545.4:c.1025A>G	18.37:g.47769458T>C	ENSP00000381553:p.Tyr342Cys						p.Y342C	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	6	1142	-			342						Missense_Mutation	SNP	ENST00000398545.4	37	c.1025A>G	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	T	18.85	3.712247	0.68730	.	.	ENSG00000172361	ENST00000398545	T	0.09538	2.97	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.28764	0.0713	M	0.63843	1.955	0.46113	D	0.998876	D	0.76494	0.999	D	0.71870	0.975	T	0.00773	-1.1572	10	0.42905	T	0.14	-1.5179	13.6629	0.62378	0.0:0.0:0.0:1.0	.	342	Q96M91	CCD11_HUMAN	C	342	ENSP00000381553:Y342C	ENSP00000381553:Y342C	Y	-	2	0	CCDC11	46023456	1.000000	0.71417	0.496000	0.27539	0.224000	0.24922	5.500000	0.66943	2.119000	0.64992	0.459000	0.35465	TAC		0.308	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			6	32	0	0	0	1	0	6	32				
EPHB2	2048	broad.mit.edu	37	1	23219480	23219480	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23219480G>A	ENST00000400191.3	+	7	1550	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R506H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R511H|EPHB2_ENST00000374632.3_Missense_Mutation_p.R511H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	511	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCGGGCACGCACCGTGGCA	0.602																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1531-1533)cGc>cAc		EPH receptor B2							68.0	68.0	68.0					1																	23219480		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219480G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1532G>A	1.37:g.23219480G>A	ENSP00000383053:p.Arg511His					EPHB2_ENST00000374630.3_Missense_Mutation_p.R511H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R506H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R511H	p.R511H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1550	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	511			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1532G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.484226	0.96307	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	M	0.72353	2.195	0.80722	D	1	B;D;D;D	0.89917	0.039;1.0;0.999;0.996	B;D;D;D	0.73708	0.007;0.981;0.967;0.969	T	0.72440	-0.4293	10	0.52906	T	0.07	.	17.5404	0.87845	0.0:0.0:1.0:0.0	.	511;511;529;511	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	H	511;511;511;511;506	ENSP00000363761:R511H;ENSP00000383053:R511H;ENSP00000363763:R511H;ENSP00000363758:R506H	ENSP00000363755:R511H	R	+	2	0	EPHB2	23092067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.723000	0.93209	0.655000	0.94253	CGC		0.602	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		9	81	0	0	0	1	0	9	81				
FHOD3	80206	broad.mit.edu	37	18	34340709	34340709	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:34340709G>A	ENST00000359247.4	+	22	3988	c.3988G>A	c.(3988-3990)Gcg>Acg	p.A1330T	FHOD3_ENST00000257209.4_Missense_Mutation_p.A1347T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A543T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A326T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1530T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1309T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1330					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)				CGCCACCCCCGCGCTGGGCGT	0.682																																						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.(4039-4041)Gcg>Acg		formin homology 2 domain containing 3							22.0	21.0	21.0					18																	34340709		2187	4292	6479	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34340709G>A	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.3988G>A	18.37:g.34340709G>A	ENSP00000352186:p.Ala1330Thr					FHOD3_ENST00000359247.4_Missense_Mutation_p.A1330T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A543T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1309T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1530T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A326T	p.A1347T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			23	4161	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1330					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.4039G>A		.	.	.	.	.	.	.	.	.	.	G	7.734	0.699805	0.15106	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.30182	1.55;1.54;1.54	5.16	3.36	0.38483	.	0.696895	0.14976	N	0.287541	T	0.09024	0.0223	N	0.00729	-1.24	0.23227	N	0.998082	B;B;B	0.16166	0.004;0.016;0.002	B;B;B	0.12837	0.005;0.002;0.008	T	0.32188	-0.9916	10	0.10111	T	0.7	.	10.7083	0.45969	0.1594:0.0:0.8406:0.0	.	1309;1330;1347	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1347;1330;1309	ENSP00000257209:A1347T;ENSP00000352186:A1330T;ENSP00000411430:A1309T	ENSP00000257209:A1347T	A	+	1	0	FHOD3	32594707	0.998000	0.40836	0.057000	0.19452	0.533000	0.34776	3.221000	0.51215	0.560000	0.29169	0.561000	0.74099	GCG		0.682	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		6	26	0	0	0	1	0	6	26				
RHOBTB2	23221	broad.mit.edu	37	8	22862016	22862016	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22862016C>T	ENST00000251822.6	+	2	606	c.69C>T	c.(67-69)aaC>aaT	p.N23N	RHOBTB2_ENST00000522948.1_Silent_p.N30N|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.N45N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	23	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGGGGACAACGCCGTGGGTA	0.587											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(67-69)aaC>aaT		Rho-related BTB domain containing 2							139.0	105.0	117.0					8																	22862016		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22862016C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.69C>T	8.37:g.22862016C>T			OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.N45N|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Silent_p.N30N	p.N23N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	2	606	+		Prostate(55;0.0513)|Breast(100;0.214)	23			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.69C>T	CCDS6034.1																																																																																				0.587	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			14	53	0	0	0	1	0	14	53				
SERINC2	347735	broad.mit.edu	37	1	31906941	31906941	+	Silent	SNP	G	G	A	rs11554767	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:31906941G>A	ENST00000373709.3	+	10	1413	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Silent_p.T430T|SERINC2_ENST00000536859.1_Silent_p.T425T|SERINC2_ENST00000536384.1_Silent_p.T425T	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	421					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATCAGCACGTGGACCGCCG	0.627																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(1288-1290)acG>acA		serine incorporator 2		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	207.0	196.0	199.0		1275,1290,1098,1275,1263	-6.6	0.9	1	dbSNP_120	199	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	,,,,	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	,,,,	425/460,430/465,366/401,425/460,421/456	31906941	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	347735					integral to membrane		g.chr1:31906941G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1263G>A	1.37:g.31906941G>A						SERINC2_ENST00000373709.3_Silent_p.T421T|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.T425T|SERINC2_ENST00000536384.1_Silent_p.T425T	p.T430T	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	11	1563	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	422					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	c.1290G>A	CCDS30662.1																																																																																				0.627	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		28	155	0	0	0	1	0	28	155				
ACACB	32	broad.mit.edu	37	12	109693958	109693958	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:109693958G>A	ENST00000338432.7	+	45	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_ENST00000377848.3_Silent_p.T2060T|ACACB_ENST00000377854.5_Silent_p.T1990T|ACACB_ENST00000543201.1_Silent_p.T726T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2060	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)	TGAAGGGAACGTGGCAGAGCG	0.602																																						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.(6178-6180)acG>acA		acetyl-CoA carboxylase beta	Biotin(DB00121)						59.0	54.0	56.0					12																	109693958		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.chr12:109693958G>A	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.6180G>A	12.37:g.109693958G>A						ACACB_ENST00000543201.1_Silent_p.T726T|ACACB_ENST00000377848.3_Silent_p.T2060T|ACACB_ENST00000377854.5_Silent_p.T1990T	p.T2060T			O00763	ACACB_HUMAN			45	6299	+			2060			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6180G>A	CCDS31898.1																																																																																				0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	55	0	0	0	1	0	7	55				
EFNB3	1949	broad.mit.edu	37	17	7612511	7612511	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7612511C>T	ENST00000226091.2	+	5	1037	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	214					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAACCTCCCGGGGTGCTGA	0.701																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(640-642)Cgg>Tgg		ephrin-B3							35.0	37.0	37.0					17																	7612511		1993	4132	6125	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612511C>T	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.640C>T	17.37:g.7612511C>T	ENSP00000226091:p.Arg214Trp						p.R214W	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1037	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	214					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.640C>T	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025031	0.54683	.	.	ENSG00000108947	ENST00000226091	T	0.33216	1.42	4.96	3.96	0.45880	.	0.315318	0.29544	N	0.011843	T	0.30916	0.0780	N	0.08118	0	0.22378	N	0.999157	D	0.89917	1.0	D	0.63877	0.919	T	0.14008	-1.0488	10	0.66056	D	0.02	-23.851	11.4629	0.50221	0.3266:0.6734:0.0:0.0	.	214	Q15768	EFNB3_HUMAN	W	214	ENSP00000226091:R214W	ENSP00000226091:R214W	R	+	1	2	EFNB3	7553236	0.043000	0.20138	1.000000	0.80357	0.991000	0.79684	0.218000	0.17622	1.043000	0.40175	0.568000	0.79292	CGG		0.701	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		19	83	0	0	0	1	0	19	83				
CUBN	8029	broad.mit.edu	37	10	16989253	16989253	+	Missense_Mutation	SNP	G	G	A	rs1276708	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:16989253G>A	ENST00000377833.4	-	36	5388	c.5323C>T	c.(5323-5325)Cgg>Tgg	p.R1775W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1775	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.		R -> W (in dbSNP:rs1276708).		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)	p.R1775W(1)		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)	AGCTGGAGCCGGTTGCCAGGG	0.453																																						ENST00000377833.4																			1	Substitution - Missense(1)	p.R1775W(1)	endometrium(1)	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.(5323-5325)Cgg>Tgg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	TRP/ARG	0,4406		0,0,2203	82.0	77.0	78.0		5323	3.6	0.7	10	dbSNP_87	78	2,8598	1.2+/-3.3	0,2,4298	no	missense	CUBN	NM_001081.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1775/3624	16989253	2,13004	2203	4300	6503	SO:0001583	missense	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.chr10:16989253G>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.5323C>T	10.37:g.16989253G>A	ENSP00000367064:p.Arg1775Trp						p.R1775W	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			36	5388	-			1775		R -> W (in dbSNP:rs1276708).	CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5323C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	g	16.91	3.251902	0.59212	0.0	2.33E-4	ENSG00000107611	ENST00000377833	T	0.19532	2.14	5.46	3.6	0.41247	CUB (5);	1.600350	0.03855	N	0.272994	T	0.54382	0.1855	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.08932	-1.0698	10	0.49607	T	0.09	.	13.1347	0.59403	0.0:0.1228:0.7491:0.128	rs1276708;rs1617293;rs1276708	1775	O60494	CUBN_HUMAN	W	1775	ENSP00000367064:R1775W	ENSP00000367064:R1775W	R	-	1	2	CUBN	17029259	1.000000	0.71417	0.662000	0.29724	0.615000	0.37417	5.145000	0.64839	0.774000	0.33427	-0.121000	0.15023	CGG		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	21	0	0	0	1	0	4	21				
UNC5B	219699	broad.mit.edu	37	10	73048739	73048739	+	Missense_Mutation	SNP	A	A	T	rs552655855		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:73048739A>T	ENST00000335350.6	+	8	1507	c.1091A>T	c.(1090-1092)aAc>aTc	p.N364I	UNC5B_ENST00000373192.4_Intron	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	364					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGACCCCAACAGCCACCGT	0.522																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1090-1092)aAc>aTc		unc-5 homolog B (C. elegans)							118.0	108.0	111.0					10																	73048739		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73048739A>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1091A>T	10.37:g.73048739A>T	ENSP00000334329:p.Asn364Ile					UNC5B_ENST00000373192.4_Intron	p.N364I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			8	1507	+			364					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1091A>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602014	0.46423	.	.	ENSG00000107731	ENST00000335350	T	0.47177	0.85	5.16	5.16	0.70880	.	0.370635	0.32987	N	0.005402	T	0.30262	0.0759	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.07578	-1.0765	10	0.40728	T	0.16	-0.1301	15.0164	0.71588	1.0:0.0:0.0:0.0	.	364	Q8IZJ1	UNC5B_HUMAN	I	364	ENSP00000334329:N364I	ENSP00000334329:N364I	N	+	2	0	UNC5B	72718745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.600000	0.54052	1.951000	0.56629	0.533000	0.62120	AAC		0.522	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	21	0	0	0	1	0	7	21				
KALRN	8997	broad.mit.edu	37	3	124132334	124132334	+	Silent	SNP	C	C	T	rs149412677		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:124132334C>T	ENST00000240874.3	+	14	2515	c.2358C>T	c.(2356-2358)gaC>gaT	p.D786D	KALRN_ENST00000360013.3_Silent_p.D786D|KALRN_ENST00000460856.1_Silent_p.D786D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	786					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						CAGAGCTAGACGCCTGGAATG	0.532																																						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.(2356-2358)gaC>gaT		kalirin, RhoGEF kinase		C	,	1,4405	2.1+/-5.4	0,1,2202	64.0	56.0	59.0		2358,2358	-1.5	1.0	3	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_003947.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	786/2987,786/1664	124132334	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:124132334C>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.2358C>T	3.37:g.124132334C>T						KALRN_ENST00000240874.3_Silent_p.D786D|KALRN_ENST00000460856.1_Silent_p.D786D	p.D786D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			14	2485	+			786					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2358C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.924969	0.18056	2.27E-4	1.16E-4	ENSG00000160145	ENST00000354186	.	.	.	5.65	-1.47	0.08772	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	4	.	.	.	.	11.3843	0.49776	0.0:0.2588:0.0:0.7412	.	.	.	.	M	764	.	.	T	+	2	0	KALRN	125615024	0.683000	0.27633	0.989000	0.46669	0.983000	0.72400	-0.192000	0.09587	-0.299000	0.08909	-1.090000	0.02178	ACG		0.532	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	26	0	0	0	1	0	4	26				
RNF148	378925	broad.mit.edu	37	7	122342454	122342454	+	Silent	SNP	G	G	A	rs199897572	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122342454G>A	ENST00000434824.1	-	1	567	c.351C>T	c.(349-351)aaC>aaT	p.N117N	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	117	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTGCTGCCACGTTGATTTTAT	0.483													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20452	0.001		0.0	False		,,,				2504	0.0					ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(349-351)aaC>aaT		ring finger protein 148		G	,,,	4,4074		0,4,2035	216.0	215.0	215.0		,,,351	-9.1	1.0	7		215	0,8368		0,0,4184	no	intron,intron,intron,coding-synonymous	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,	0,4,6219	AA,AG,GG		0.0,0.0981,0.0321	,,,	,,,117/306	122342454	4,12442	2039	4184	6223	SO:0001819	synonymous_variant	378925					integral to membrane	zinc ion binding	g.chr7:122342454G>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.351C>T	7.37:g.122342454G>A						CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	p.N117N	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	567	-			117			PA.		A4D0X4|Q8N308	Silent	SNP	ENST00000434824.1	37	c.351C>T	CCDS47692.1																																																																																				0.483	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		32	149	0	0	0	1	0	32	149				
NGEF	25791	broad.mit.edu	37	2	233757708	233757708	+	Missense_Mutation	SNP	C	C	T	rs146544382		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233757708C>T	ENST00000264051.3	-	7	1320	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	NGEF_ENST00000373552.4_Missense_Mutation_p.V256M|NGEF_ENST00000539537.1_Missense_Mutation_p.V71M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	348	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATGTCACACACGTCAGAGATG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		21054	0.0		0.001	False		,,,				2504	0.0					ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1042-1044)Gtg>Atg		neuronal guanine nucleotide exchange factor		C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	184.0	146.0	159.0		766,1042	5.1	1.0	2	dbSNP_134	159	15,8585	12.6+/-44.7	0,15,4285	yes	missense,missense	NGEF	NM_001114090.1,NM_019850.2	21,21	0,16,6487	TT,TC,CC		0.1744,0.0227,0.123	probably-damaging,probably-damaging	256/619,348/711	233757708	16,12990	2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233757708C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1042G>A	2.37:g.233757708C>T	ENSP00000264051:p.Val348Met					NGEF_ENST00000539537.1_Missense_Mutation_p.V71M|NGEF_ENST00000373552.4_Missense_Mutation_p.V256M	p.V348M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	7	1320	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	348			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1042G>A	CCDS2500.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	17.82|17.82	3.482681|3.482681	0.63962|0.63962	2.27E-4|2.27E-4	0.001744|0.001744	ENSG00000066248|ENSG00000066248	ENST00000420650|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	.|T;T;T;T;T	.|0.66995	.|-0.24;-0.24;-0.24;-0.24;-0.24	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81809|0.81809	0.4901|0.4901	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.989	D|D	0.84014|0.84014	0.0350|0.0350	5|10	.|0.87932	.|D	.|0	-35.802|-35.802	18.6071|18.6071	0.91271|0.91271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|256;348	.|E9PC42;Q8N5V2	.|.;NGEF_HUMAN	H|M	140|348;256;238;71;71;71	.|ENSP00000264051:V348M;ENSP00000362653:V256M;ENSP00000439035:V71M;ENSP00000401063:V71M;ENSP00000412614:V71M	.|ENSP00000264051:V348M	R|V	-|-	2|1	0|0	NGEF|NGEF	233465952|233465952	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.355000|0.355000	0.29361|0.29361	3.714000|3.714000	0.54889|0.54889	2.396000|2.396000	0.81511|0.81511	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.587	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		15	83	0	0	0	1	0	15	83				
CHST5	23563	broad.mit.edu	37	16	75563937	75563937	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:75563937C>T	ENST00000336257.3	-	3	1740	c.346G>A	c.(346-348)Gac>Aac	p.D116N	CHST5_ENST00000541075.1_Missense_Mutation_p.D122N|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	116					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						CGCATCAGGTCGCGCACGGCC	0.612																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(346-348)Gac>Aac		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							66.0	57.0	60.0					16																	75563937		2198	4300	6498	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563937C>T	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.346G>A	16.37:g.75563937C>T	ENSP00000338783:p.Asp116Asn					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D122N	p.D116N	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1740	-			116					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.346G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274706	0.59649	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.82344	-1.6;-1.6	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88579	0.3135	10	0.41790	T	0.15	.	12.3965	0.55389	0.0:1.0:0.0:0.0	.	122;116	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	116;122	ENSP00000338783:D116N;ENSP00000441220:D122N	ENSP00000338783:D116N	D	-	1	0	CHST5	74121438	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	7.349000	0.79376	1.514000	0.48869	0.313000	0.20887	GAC		0.612	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		13	60	0	0	0	1	0	13	60				
ARMC9	80210	broad.mit.edu	37	2	232196543	232196543	+	Silent	SNP	C	C	T	rs199727070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232196543C>T	ENST00000349938.4	+	20	2006	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	604						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20332	0.0		0.001	False		,,,				2504	0.0					ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1810-1812)gaC>gaT		armadillo repeat containing 9							72.0	71.0	71.0					2																	232196543		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232196543C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1812C>T	2.37:g.232196543C>T						ARMC9_ENST00000483477.1_3'UTR	p.D604D	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	20	2006	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	604					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1812C>T	CCDS2484.1																																																																																				0.562	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	24	0	0	0	1	0	4	24				
RGS9	8787	broad.mit.edu	37	17	63206629	63206629	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:63206629G>A	ENST00000262406.9	+	17	1380	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	RGS9_ENST00000449996.3_Missense_Mutation_p.R435H|RGS9_ENST00000443584.3_Missense_Mutation_p.R435H	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	438					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TTTATGCGGCGTCACCTGCGC	0.572																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1303-1305)cGt>cAt		regulator of G-protein signaling 9							117.0	122.0	120.0					17																	63206629		2086	4216	6302	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206629G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1313G>A	17.37:g.63206629G>A	ENSP00000262406:p.Arg438His					RGS9_ENST00000262406.9_Missense_Mutation_p.R438H|RGS9_ENST00000443584.3_Missense_Mutation_p.R435H	p.R435H	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			17	1376	+			438					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1304G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732146	0.89390	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.35421	1.35;1.31	5.31	5.31	0.75309	.	0.125984	0.53938	D	0.000051	T	0.55784	0.1942	M	0.64404	1.975	0.41596	D	0.988828	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.69824	0.899;0.926;0.966	T	0.57923	-0.7727	10	0.72032	D	0.01	.	13.6252	0.62159	0.0744:0.0:0.9256:0.0	.	438;438;435	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	H	438;435	ENSP00000262406:R438H;ENSP00000396329:R435H	ENSP00000262406:R438H	R	+	2	0	RGS9	60637091	1.000000	0.71417	0.847000	0.33407	0.988000	0.76386	5.266000	0.65525	2.652000	0.90054	0.655000	0.94253	CGT		0.572	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		14	103	0	0	0	1	0	14	103				
TTC16	158248	broad.mit.edu	37	9	130489367	130489367	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:130489367C>T	ENST00000373289.3	+	11	1624	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	PTRH1_ENST00000419060.1_5'Flank|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	515										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCCTGCAGGCCGGCAGCCCA	0.662																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1543-1545)gCc>gTc		tetratricopeptide repeat domain 16							22.0	23.0	23.0					9																	130489367		2201	4290	6491	SO:0001583	missense	158248						binding	g.chr9:130489367C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1544C>T	9.37:g.130489367C>T	ENSP00000362386:p.Ala515Val					TTC16_ENST00000489226.1_3'UTR	p.A515V	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			11	1624	+			515					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1544C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667526	0.29604	.	.	ENSG00000167094	ENST00000373289;ENST00000373288	T	0.16457	2.34	5.69	-3.91	0.04168	.	2.922720	0.00633	N	0.000486	T	0.13114	0.0318	L	0.44542	1.39	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.10450	0.005;0.005	T	0.17289	-1.0374	10	0.45353	T	0.12	0.1096	0.6504	0.00826	0.3719:0.2282:0.11:0.2898	.	502;515	B4DZ42;Q8NEE8	.;TTC16_HUMAN	V	515;293	ENSP00000362386:A515V	ENSP00000362385:A293V	A	+	2	0	TTC16	129529188	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.599000	0.05700	-1.263000	0.02455	-0.300000	0.09419	GCC		0.662	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		6	27	0	0	0	1	0	6	27				
TMEM130	222865	broad.mit.edu	37	7	98445737	98445737	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98445737C>T	ENST00000416379.2	-	8	1254	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	TMEM130_ENST00000546258.1_Missense_Mutation_p.R386H|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303H|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000339375.4_Missense_Mutation_p.R405H|TMEM130_ENST00000450876.1_Missense_Mutation_p.R321H			Q8N3G9	TM130_HUMAN	transmembrane protein 130	417						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGTTCTCACGAACAATTTC	0.567																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(961-963)cGt>cAt		transmembrane protein 130							59.0	57.0	58.0					7																	98445737		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98445737C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1250G>A	7.37:g.98445737C>T	ENSP00000413163:p.Arg417His					TMEM130_ENST00000339375.4_Missense_Mutation_p.R405H|TMEM130_ENST00000546258.1_Missense_Mutation_p.R386H|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303H|TMEM130_ENST00000416379.2_Missense_Mutation_p.R417H	p.R321H			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	2277	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		417					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.962G>A	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049714	0.75846	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.26957	1.71;1.7;1.74;1.75;1.72	5.31	4.42	0.53409	.	0.131302	0.31347	N	0.007820	T	0.43545	0.1252	L	0.56769	1.78	0.37119	D	0.900714	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	T	0.49263	-0.8958	10	0.66056	D	0.02	-26.0954	10.3828	0.44121	0.0:0.9065:0.0:0.0935	.	405;386;417;303	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	H	417;405;321;303;386	ENSP00000413163:R417H;ENSP00000341256:R405H;ENSP00000390200:R321H;ENSP00000330262:R303H;ENSP00000445869:R386H	ENSP00000341256:R405H	R	-	2	0	TMEM130	98283673	0.931000	0.31567	0.993000	0.49108	0.822000	0.46500	2.760000	0.47581	2.491000	0.84063	0.561000	0.74099	CGT		0.567	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		9	43	0	0	0	1	0	9	43				
CCR7	1236	broad.mit.edu	37	17	38711044	38711044	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38711044G>A	ENST00000246657.2	-	3	1149	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CCR7_ENST00000579344.1_Missense_Mutation_p.R357C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	363					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ATGGAGGAGCGCCGGATGTGC	0.632																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1087-1089)Cgc>Tgc		chemokine (C-C motif) receptor 7							66.0	65.0	65.0					17																	38711044		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711044G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.1087C>T	17.37:g.38711044G>A	ENSP00000246657:p.Arg363Cys					CCR7_ENST00000579344.1_Missense_Mutation_p.R357C	p.R363C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	1149	-		Breast(137;0.000496)	363						Missense_Mutation	SNP	ENST00000246657.2	37	c.1087C>T	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230912	0.39399	.	.	ENSG00000126353	ENST00000246657	T	0.61392	0.11	5.73	3.68	0.42216	.	1.356510	0.04979	N	0.465273	T	0.64951	0.2645	M	0.68593	2.085	0.50313	D	0.999861	D	0.55605	0.972	P	0.44561	0.453	T	0.58572	-0.7613	10	0.87932	D	0	.	14.5371	0.67969	0.0:0.0:0.4982:0.5018	.	363	P32248	CCR7_HUMAN	C	363	ENSP00000246657:R363C	ENSP00000246657:R363C	R	-	1	0	CCR7	35964570	1.000000	0.71417	0.294000	0.24946	0.294000	0.27393	2.775000	0.47702	0.718000	0.32166	0.555000	0.69702	CGC		0.632	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			16	70	0	0	0	1	0	16	70				
CNTF	1270	broad.mit.edu	37	11	58391921	58391921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58391921C>T	ENST00000361987.4	+	2	609	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGACCTTCGTTTCATTTC	0.463																																						ENST00000361987.4																			0				NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(529-531)Cgt>Tgt		ciliary neurotrophic factor							101.0	104.0	103.0					11																	58391921		2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391921C>T	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.529C>T	11.37:g.58391921C>T	ENSP00000355370:p.Arg177Cys					ZFP91-CNTF_ENST00000389919.4_3'UTR	p.R177C	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN			2	609	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	177					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.529C>T	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890423	0.72524	.	.	ENSG00000242689	ENST00000361987	T	0.46819	0.86	5.48	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.66257	0.2771	M	0.69823	2.125	0.49051	D	0.999749	D	0.89917	1.0	D	0.79784	0.993	T	0.69796	-0.5048	9	0.72032	D	0.01	-9.2467	12.8889	0.58058	0.1633:0.8367:0.0:0.0	.	177	P26441	CNTF_HUMAN	C	177	ENSP00000355370:R177C	ENSP00000447778:R177C	R	+	1	0	CNTF	58148497	0.787000	0.28750	0.832000	0.32986	0.990000	0.78478	2.307000	0.43682	1.298000	0.44778	0.650000	0.86243	CGT		0.463	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		10	49	0	0	0	1	0	10	49				
CASKIN2	57513	broad.mit.edu	37	17	73497583	73497583	+	Missense_Mutation	SNP	C	C	T	rs140270094	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73497583C>T	ENST00000321617.3	-	19	4070	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm (GO:0005737)		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTTCTCTGCGGCTCTCAGT	0.657																																						ENST00000321617.3																			1	Deletion - In frame(1)	p.L1159_A1162del(1)	pancreas(1)	endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3484-3486)Gca>Aca		CASK interacting protein 2							68.0	78.0	75.0					17																	73497583		2194	4266	6460	SO:0001583	missense	57513					cytoplasm		g.chr17:73497583C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3484G>A	17.37:g.73497583C>T	ENSP00000325355:p.Ala1162Thr					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080T	p.A1162T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	4070	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1162					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3484G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186390	0.94885	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70282	-0.47;-0.29	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.72969	0.3527	L	0.35414	1.06	0.80722	D	1	D	0.71674	0.998	P	0.55303	0.773	T	0.69135	-0.5225	10	0.27785	T	0.31	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	T	1162;1080	ENSP00000325355:A1162T;ENSP00000406963:A1080T	ENSP00000325355:A1162T	A	-	1	0	CASKIN2	71009178	1.000000	0.71417	0.794000	0.32065	0.908000	0.53690	7.736000	0.84948	2.641000	0.89580	0.591000	0.81541	GCA		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		32	145	0	0	0	1	0	32	145				
RHBDF1	64285	broad.mit.edu	37	16	108437	108437	+	Missense_Mutation	SNP	C	C	T	rs369772748		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:108437C>T	ENST00000262316.6	-	18	2612	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	824					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACAGGATAGACGTAGAAGAGG	0.557																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2470-2472)Gtc>Atc		rhomboid 5 homolog 1 (Drosophila)							150.0	154.0	153.0					16																	108437		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108437C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2470G>A	16.37:g.108437C>T	ENSP00000262316:p.Val824Ile						p.V824I	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2612	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	824					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2470G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	5.270	0.235166	0.09969	.	.	ENSG00000007384	ENST00000262316	T	0.51071	0.72	5.06	-2.0	0.07433	.	0.311639	0.35805	N	0.002966	T	0.33789	0.0875	L	0.43701	1.375	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48043	-0.9069	10	0.02654	T	1	-7.1159	17.5991	0.88021	0.287:0.713:0.0:0.0	.	824	Q96CC6	RHDF1_HUMAN	I	824	ENSP00000262316:V824I	ENSP00000262316:V824I	V	-	1	0	RHBDF1	48437	0.986000	0.35501	0.984000	0.44739	0.948000	0.59901	0.507000	0.22675	-0.621000	0.05633	-1.856000	0.00563	GTC		0.557	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		19	134	0	0	0	1	0	19	134				
CYP2B6	1555	broad.mit.edu	37	19	41497314	41497314	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41497314G>A	ENST00000324071.4	+	1	111	c.104G>A	c.(103-105)cGc>cAc	p.R35H	CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	35					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCAGGGCCCCGCCCTCTGCCC	0.572																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(103-105)cGc>cAc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						158.0	175.0	169.0					19																	41497314		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41497314G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.104G>A	19.37:g.41497314G>A	ENSP00000324648:p.Arg35His					CYP2B6_ENST00000598834.1_3'UTR	p.R35H	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		1	111	+			35					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.104G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347284	0.41599	.	.	ENSG00000197408	ENST00000324071	T	0.01347	4.99	3.1	-1.05	0.10036	.	1.538470	0.04188	N	0.327764	T	0.04182	0.0116	M	0.89785	3.06	0.09310	N	1	D	0.59357	0.985	B	0.43889	0.435	T	0.44159	-0.9346	10	0.66056	D	0.02	.	4.8714	0.13635	0.1368:0.4295:0.4337:0.0	.	35	P20813	CP2B6_HUMAN	H	35	ENSP00000324648:R35H	ENSP00000324648:R35H	R	+	2	0	CYP2B6	46189154	0.000000	0.05858	0.085000	0.20634	0.142000	0.21351	-0.565000	0.05929	0.141000	0.18875	0.298000	0.19748	CGC		0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		51	257	0	0	0	1	0	51	257				
PPM1D	8493	broad.mit.edu	37	17	58700883	58700883	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:58700883G>A	ENST00000305921.3	+	2	706	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	158	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTATTACAGCGGAATGGCCAA	0.403																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.e2-1		protein phosphatase, Mg2+/Mn2+ dependent, 1D							150.0	152.0	151.0					17																	58700883		2203	4300	6503	SO:0001630	splice_region_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58700883G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.473-1G>A	17.37:g.58700883G>A							p.A158_splice	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		2	706	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		158			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Splice_Site	SNP	ENST00000305921.3	37	c.472_splice	CCDS11625.1																																																																																				0.403	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620	Silent	22	126	0	0	0	1	0	22	126				
EIF3D	8664	broad.mit.edu	37	22	36907719	36907719	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:36907719C>A	ENST00000216190.8	-	14	1834	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	EIF3D_ENST00000541106.1_Missense_Mutation_p.W439C|EIF3D_ENST00000405442.1_Missense_Mutation_p.W488C|EIF3D_ENST00000478547.1_5'Flank	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTAAAATGCCCCAGGCATTCT	0.542											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(1462-1464)tgG>tgT		eukaryotic translation initiation factor 3, subunit D							147.0	113.0	124.0					22																	36907719		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36907719C>A	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1464G>T	22.37:g.36907719C>A	ENSP00000216190:p.Trp488Cys		OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	EIF3D_ENST00000462641.1_5'UTR|EIF3D_ENST00000405442.1_Missense_Mutation_p.W488C|EIF3D_ENST00000541106.1_Missense_Mutation_p.W439C	p.W488C	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			14	1834	-			488						Missense_Mutation	SNP	ENST00000216190.8	37	c.1464G>T	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572279	0.86542	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000426531	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89199	0.3556	9	0.87932	D	0	-23.9161	20.1141	0.97919	0.0:1.0:0.0:0.0	.	439;488	B4DVY1;O15371	.;EIF3D_HUMAN	C	488;473;439;488;141	.	ENSP00000216190:W488C	W	-	3	0	EIF3D	35237665	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.032000	0.76498	2.757000	0.94681	0.591000	0.81541	TGG		0.542	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			6	38	1	0	2.0095e-06	1	2.04037e-06	6	38				
SAMM50	25813	broad.mit.edu	37	22	44371976	44371976	+	Silent	SNP	C	C	T	rs34262262		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:44371976C>T	ENST00000350028.4	+	8	847	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SAMM50_ENST00000396202.3_Silent_p.G20G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	230					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)				AGTGGGAAGGCGTATGGCGAG	0.483																																						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.(688-690)ggC>ggT		SAMM50 sorting and assembly machinery component							90.0	78.0	82.0					22																	44371976		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.chr22:44371976C>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.690C>T	22.37:g.44371976C>T						SAMM50_ENST00000396202.3_Silent_p.G20G	p.G230G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			8	847	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	230					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.690C>T	CCDS14055.1																																																																																				0.483	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		5	31	0	0	0	1	0	5	31				
LRRC41	10489	broad.mit.edu	37	1	46751151	46751151	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46751151G>A	ENST00000343304.6	-	4	1663	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	460					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGATGCTGCGGAATCTTTGT	0.562																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1378-1380)Cgc>Tgc		leucine rich repeat containing 41							99.0	94.0	96.0					1																	46751151		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46751151G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1378C>T	1.37:g.46751151G>A	ENSP00000343298:p.Arg460Cys					LRRC41_ENST00000472710.1_5'UTR	p.R460C	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1663	-	Acute lymphoblastic leukemia(166;0.155)		460					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1378C>T	CCDS533.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.939325	0.52972	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.53857	0.6	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.59390	0.2190	L	0.27053	0.805	0.47407	D	0.999413	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.63161	-0.6699	10	0.87932	D	0	-0.5624	12.4453	0.55647	0.0:0.0:0.7065:0.2935	.	460;438;460	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	C	460;438	ENSP00000343298:R460C	ENSP00000343298:R460C	R	-	1	0	LRRC41	46523738	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.556000	0.53734	2.424000	0.82194	0.450000	0.29827	CGC		0.562	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		12	66	0	0	0	1	0	12	66				
FAM207A	85395	broad.mit.edu	37	21	46363698	46363698	+	Missense_Mutation	SNP	G	G	A	rs576306304	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:46363698G>A	ENST00000291634.6	+	2	277	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	FAM207A_ENST00000397826.3_Missense_Mutation_p.V77I	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	77																	TGTCACTTCCGTCAGGAGAGG	0.597													G|||	4	0.000798722	0.003	0.0	5008	,	,		21070	0.0		0.0	False		,,,				2504	0.0					ENST00000291634.6																			0											c.(229-231)Gtc>Atc		family with sequence similarity 207, member A							103.0	80.0	88.0					21																	46363698		2203	4300	6503	SO:0001583	missense	85395							g.chr21:46363698G>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.229G>A	21.37:g.46363698G>A	ENSP00000291634:p.Val77Ile					FAM207A_ENST00000397826.3_Missense_Mutation_p.V77I	p.V77I	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			2	277	+			77						Missense_Mutation	SNP	ENST00000291634.6	37	c.229G>A	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	G	7.080	0.570111	0.13560	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T	0.44482	1.03;0.92	3.65	-5.28	0.02755	.	1.382410	0.05018	N	0.472261	T	0.22399	0.0540	N	0.20685	0.6	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.14578	0.007;0.011	T	0.16600	-1.0397	10	0.16420	T	0.52	-9.9724	5.8401	0.18629	0.3963:0.3579:0.2458:0.0	.	77;77	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	I	77	ENSP00000291634:V77I;ENSP00000380926:V77I	ENSP00000291634:V77I	V	+	1	0	C21orf70	45188126	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-3.082000	0.00613	-1.323000	0.02275	-0.253000	0.11424	GTC		0.597	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		10	43	0	0	0	1	0	10	43				
ATP2B3	492	broad.mit.edu	37	X	152821637	152821637	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152821637G>A	ENST00000349466.2	+	13	2515	c.2189G>A	c.(2188-2190)tGc>tAc	p.C730Y	ATP2B3_ENST00000370181.2_Missense_Mutation_p.C716Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C716Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C730Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C730Y|ATP2B3_ENST00000370186.1_Missense_Mutation_p.C716Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	730					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)			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)					GACTTCCTGTGCCTAGAAGGG	0.637																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2146-2148)tGc>tAc		ATPase, Ca++ transporting, plasma membrane 3							58.0	51.0	53.0					X																	152821637		2203	4300	6503	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:152821637G>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.2189G>A	X.37:g.152821637G>A	ENSP00000343886:p.Cys730Tyr					ATP2B3_ENST00000349466.2_Missense_Mutation_p.C730Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C716Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C730Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C716Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C730Y	p.C716Y			Q16720	AT2B3_HUMAN			12	2473	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		730					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2147G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422299	0.83559	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	4.74	4.74	0.60224	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	L	0.58354	1.805	0.58432	D	0.999994	P;P	0.42973	0.796;0.758	P;B	0.45138	0.471;0.34	D	0.96355	0.9261	10	0.87932	D	0	-27.4374	15.9081	0.79447	0.0:0.0:1.0:0.0	.	730;730	Q16720;Q16720-2	AT2B3_HUMAN;.	Y	716;730;716;730;730;716	ENSP00000359205:C716Y;ENSP00000343886:C730Y;ENSP00000377425:C716Y;ENSP00000352062:C730Y;ENSP00000263519:C730Y;ENSP00000359200:C716Y	ENSP00000263519:C730Y	C	+	2	0	ATP2B3	152474831	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.721000	0.98766	2.090000	0.63153	0.436000	0.28706	TGC		0.637	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		12	22	0	0	0	1	0	12	22				
OR4A16	81327	broad.mit.edu	37	11	55111453	55111453	+	Silent	SNP	C	C	A	rs79231280	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:55111453C>A	ENST00000314721.2	+	1	827	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	259						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						ATGTTAGACCCGTTTCCAACT	0.388																																						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.(775-777)ccC>ccA		olfactory receptor, family 4, subfamily A, member 16							152.0	142.0	145.0					11																	55111453		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111453C>A	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.777C>A	11.37:g.55111453C>A							p.P259P	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	827	+			259					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.777C>A	CCDS31499.1																																																																																				0.388	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		5	26	1	0	0.000602214	1	0.000607226	5	26				
ARHGEF11	9826	broad.mit.edu	37	1	156937788	156937788	+	Silent	SNP	G	G	A	rs149641569		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156937788G>A	ENST00000361409.2	-	10	1576	c.834C>T	c.(832-834)acC>acT	p.T278T	ARHGEF11_ENST00000368194.3_Silent_p.T318T	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	278					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGTCACCGGTTGAGGGGA	0.582																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(952-954)acC>acT		Rho guanine nucleotide exchange factor (GEF) 11		G	,	0,4406		0,0,2203	53.0	50.0	51.0		834,954	1.8	0.0	1	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ARHGEF11	NM_014784.2,NM_198236.1	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	278/1523,318/1563	156937788	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156937788G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.834C>T	1.37:g.156937788G>A						ARHGEF11_ENST00000361409.2_Silent_p.T278T	p.T318T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			11	1993	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		278			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.954C>T	CCDS1162.1																																																																																				0.582	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		7	45	0	0	0	1	0	7	45				
SEC16A	9919	broad.mit.edu	37	9	139369757	139369757	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139369757G>A	ENST00000371706.3	-	1	1810	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	SEC16A_ENST00000313050.7_Missense_Mutation_p.R771W|SEC16A_ENST00000431893.2_Missense_Mutation_p.R593W|SEC16A_ENST00000290037.6_Missense_Mutation_p.R593W			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	593					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTGGGTTCCGTGACTGCTGC	0.612																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2311-2313)Cgg>Tgg		SEC16 homolog A (S. cerevisiae)							24.0	27.0	26.0					9																	139369757		1973	4146	6119	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369757G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1777C>T	9.37:g.139369757G>A	ENSP00000360771:p.Arg593Trp					SEC16A_ENST00000431893.2_Missense_Mutation_p.R593W|SEC16A_ENST00000371706.3_Missense_Mutation_p.R593W|SEC16A_ENST00000290037.6_Missense_Mutation_p.R593W	p.R771W	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2384	-		Myeloproliferative disorder(178;0.0511)	593					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2311C>T		.	.	.	.	.	.	.	.	.	.	g	4.654	0.121493	0.08881	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.38	2.45	0.29901	.	1.431730	0.04118	N	0.315741	T	0.14485	0.0350	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.13594	0.004;0.008;0.008;0.003	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.27400	-1.0075	10	0.59425	D	0.04	-3.5128	1.3695	0.02207	0.2637:0.1539:0.4251:0.1573	.	771;593;593;398	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	W	771;593;593;593;398	ENSP00000325827:R771W;ENSP00000360771:R593W;ENSP00000290037:R593W;ENSP00000387583:R593W	ENSP00000290037:R593W	R	-	1	2	SEC16A	138489578	0.000000	0.05858	0.001000	0.08648	0.357000	0.29423	0.099000	0.15210	0.939000	0.37446	0.550000	0.68814	CGG		0.612	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		3	28	0	0	0	1	0	3	28				
RCOR3	55758	broad.mit.edu	37	1	211462719	211462719	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:211462719T>C	ENST00000367005.4	+	7	887	c.746T>C	c.(745-747)tTg>tCg	p.L249S	RCOR3_ENST00000367006.4_Missense_Mutation_p.L307S|RCOR3_ENST00000419091.2_Missense_Mutation_p.L307S|RCOR3_ENST00000452621.2_Missense_Mutation_p.L307S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATGGAGTTGATCTCTCTA	0.413																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(745-747)tTg>tCg		REST corepressor 3							75.0	66.0	69.0					1																	211462719		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211462719T>C	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.746T>C	1.37:g.211462719T>C	ENSP00000355972:p.Leu249Ser					RCOR3_ENST00000419091.2_Missense_Mutation_p.L307S|RCOR3_ENST00000452621.2_Missense_Mutation_p.L307S|RCOR3_ENST00000367006.4_Missense_Mutation_p.L307S	p.L249S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	7	887	+			249					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.746T>C	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261035	0.80246	.	.	ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T;T	0.42131	0.98;1.58;1.58;1.58;0.98	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	M	0.81341	2.54	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.91635	0.999;0.923;0.986;0.99	T	0.69672	-0.5082	10	0.49607	T	0.09	-1.8101	15.9583	0.79906	0.0:0.0:0.0:1.0	.	307;249;307;307	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	S	307;307;307;249;67	ENSP00000355973:L307S;ENSP00000398558:L307S;ENSP00000413929:L307S;ENSP00000355972:L249S;ENSP00000437048:L67S	ENSP00000355972:L249S	L	+	2	0	RCOR3	209529342	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	7.633000	0.83260	2.171000	0.68590	0.533000	0.62120	TTG		0.413	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		7	29	0	0	0	1	0	7	29				
STRIP2	57464	broad.mit.edu	37	7	129094302	129094302	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:129094302C>T	ENST00000249344.2	+	7	680	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	STRIP2_ENST00000435494.2_Missense_Mutation_p.R214C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	214					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GGAAAATATTCGCCTGGAGCG	0.522																																						ENST00000249344.2																			0											c.(640-642)Cgc>Tgc		striatin interacting protein 2							116.0	103.0	107.0					7																	129094302		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129094302C>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.640C>T	7.37:g.129094302C>T	ENSP00000249344:p.Arg214Cys					STRIP2_ENST00000435494.2_Missense_Mutation_p.R214C	p.R214C	NM_020704.2	NP_065755.1					7	680	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.640C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526981	0.85706	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.55588	0.52;0.51	5.71	5.71	0.89125	.	0.054495	0.64402	D	0.000001	T	0.76018	0.3929	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.91;0.947	T	0.80023	-0.1556	10	0.87932	D	0	-10.8251	17.3329	0.87271	0.0:1.0:0.0:0.0	.	214;214	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	214	ENSP00000249344:R214C;ENSP00000392393:R214C	ENSP00000249344:R214C	R	+	1	0	FAM40B	128881538	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.065000	0.49994	2.706000	0.92434	0.561000	0.74099	CGC		0.522	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		7	47	0	0	0	1	0	7	47				
STAT3	6774	broad.mit.edu	37	17	40474485	40474485	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:40474485G>A	ENST00000264657.5	-	21	2228	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	STAT3_ENST00000389272.3_Missense_Mutation_p.P541L|STAT3_ENST00000588969.1_Missense_Mutation_p.P639L|STAT3_ENST00000585517.1_Missense_Mutation_p.P639L|STAT3_ENST00000404395.3_Missense_Mutation_p.P639L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	639	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|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)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTGTGTATGGTTCCACGGA	0.453									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1915-1917)cCa>cTa		signal transducer and activator of transcription 3 (acute-phase response factor)							237.0	208.0	218.0					17																	40474485		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474485G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1916C>T	17.37:g.40474485G>A	ENSP00000264657:p.Pro639Leu					STAT3_ENST00000585517.1_Missense_Mutation_p.P639L|STAT3_ENST00000389272.3_Missense_Mutation_p.P541L|STAT3_ENST00000588969.1_Missense_Mutation_p.P639L|STAT3_ENST00000404395.3_Missense_Mutation_p.P639L	p.P639L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2228	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	639			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1916C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404148	0.83230	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.99207	-5.56;-5.56;-5.56	4.64	4.64	0.57946	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.84326	2.69	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.997;0.997	D	0.98715	1.0706	10	0.87932	D	0	-17.2289	17.7038	0.88303	0.0:0.0:1.0:0.0	.	639;639;639	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	L	639;541;639	ENSP00000264657:P639L;ENSP00000373923:P541L;ENSP00000384943:P639L	ENSP00000264657:P639L	P	-	2	0	STAT3	37728011	1.000000	0.71417	0.982000	0.44146	0.661000	0.39034	9.657000	0.98554	2.411000	0.81874	0.563000	0.77884	CCA		0.453	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		18	82	0	0	0	1	0	18	82				
SAMD11	148398	broad.mit.edu	37	1	878744	878745	+	Frame_Shift_Del	DEL	GA	GA	-	rs72902602|rs138897766	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:878744_878745delGA	ENST00000342066.3	+	12	1759_1760	c.1676_1677delGA	c.(1675-1677)ggafs	p.G559fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	559	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTGGCTGTGGAGAGTACACTC	0.658																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1675-1677)gfs		sterile alpha motif domain containing 11																																				SO:0001589	frameshift_variant	148398					nucleus		g.chr1:878744_878745delGA	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1676_1677delGA	1.37:g.878746_878747delGA	ENSP00000342313:p.Gly559fs						p.G559fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	12	1759_1760	+	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)	559			SAM.		A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Del	DEL	ENST00000342066.3	37	c.1676_1677delGA	CCDS2.2																																																																																				0.658	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		15	63						15	63	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24080607	24080609	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:24080607_24080609delGAA	ENST00000418390.2	+	6	1904_1906	c.1633_1635delGAA	c.(1633-1635)gaadel	p.E548del	TCEB3_ENST00000609199.1_In_Frame_Del_p.E522del	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCACCCCAGGAAGAAGAAGAAG	0.473																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1633-1635)del		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)				2,4264		0,2,2131						2.4	1.0			94	3,8251		1,1,4125	no	coding	TCEB3	NM_003198.2		1,3,6256	A1A1,A1R,RR		0.0363,0.0469,0.0399				5,12515				SO:0001651	inframe_deletion	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080607_24080609delGAA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1633_1635delGAA	1.37:g.24080616_24080618delGAA	ENSP00000395574:p.Glu548del						p.E548del	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	6	1904_1906	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	548			Activation domain (By similarity).		B2R7Q8|Q8IXH1	In_Frame_Del	DEL	ENST00000418390.2	37	c.1633_1635delGAA	CCDS239.2																																																																																				0.473	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		9	57						9	57	---	---	---	---
RLF	6018	broad.mit.edu	37	1	40705391	40705391	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40705391delA	ENST00000372771.4	+	8	5044	c.5017delA	c.(5017-5019)aaafs	p.K1673fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1673					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTTGAAATGTAATCA	0.408																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(5017-5019)aafs		rearranged L-myc fusion							77.0	76.0	76.0					1																	40705391		2203	4300	6503	SO:0001589	frameshift_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40705391delA		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5017delA	1.37:g.40705391delA	ENSP00000361857:p.Lys1673fs						p.K1673fs	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	5044	+	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)	1673					Q14CQ1|Q9NU60	Frame_Shift_Del	DEL	ENST00000372771.4	37	c.5017delA	CCDS448.1																																																																																				0.408	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		9	59						9	59	---	---	---	---
AGL	178	broad.mit.edu	37	1	100346968	100346970	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:100346968_100346970delCTT	ENST00000294724.4	+	16	2600_2602	c.2122_2124delCTT	c.(2122-2124)cttdel	p.L708del	AGL_ENST00000361302.3_In_Frame_Del_p.L692del|AGL_ENST00000361522.4_In_Frame_Del_p.L691del|AGL_ENST00000370163.3_In_Frame_Del_p.L708del|AGL_ENST00000370165.3_In_Frame_Del_p.L708del|AGL_ENST00000370161.2_In_Frame_Del_p.L692del|AGL_ENST00000361915.3_In_Frame_Del_p.L708del	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	708					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATCAGTAAACTTCATCAGGAGC	0.394																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2122-2124)del		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase																																				SO:0001651	inframe_deletion	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346968_100346970delCTT	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2122_2124delCTT	1.37:g.100346968_100346970delCTT	ENSP00000294724:p.Leu708del					AGL_ENST00000370161.2_In_Frame_Del_p.L692del|AGL_ENST00000370163.3_In_Frame_Del_p.L708del|AGL_ENST00000361302.3_In_Frame_Del_p.L692del|AGL_ENST00000361522.4_In_Frame_Del_p.L691del|AGL_ENST00000361915.3_In_Frame_Del_p.L708del|AGL_ENST00000370165.3_In_Frame_Del_p.L708del	p.L708del	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	16	2600_2602	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	708					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	In_Frame_Del	DEL	ENST00000294724.4	37	c.2122_2124delCTT	CCDS759.1																																																																																				0.394	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		12	99						12	99	---	---	---	---
RGS2	5997	broad.mit.edu	37	1	192779369	192779369	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:192779369delA	ENST00000235382.5	+	2	215	c.184delA	c.(184-186)aaafs	p.K63fs	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	63	Necessary for membrane association.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						CAAAACCGGCAAAAAAAGCAA	0.368																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(184-186)aafs		regulator of G-protein signaling 2, 24kDa							78.0	82.0	81.0					1																	192779369		2203	4300	6503	SO:0001589	frameshift_variant	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192779369delA	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.184delA	1.37:g.192779369delA	ENSP00000235382:p.Lys63fs					RGS2_ENST00000483295.1_3'UTR	p.K63fs	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN			2	215	+			63			Necessary for membrane association.		Q6I9U5	Frame_Shift_Del	DEL	ENST00000235382.5	37	c.184delA	CCDS1377.1																																																																																				0.368	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		7	50						7	50	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196709822	196709824	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:196709822_196709824delAGA	ENST00000367429.4	+	18	3096_3098	c.2856_2858delAGA	c.(2854-2859)ggagaa>gga	p.E954del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	954	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCAGTATGGAGAAGAAGTTACG	0.384																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2854-2859)gga>gg		complement factor H																																				SO:0001651	inframe_deletion	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709822_196709824delAGA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2856_2858delAGA	1.37:g.196709825_196709827delAGA	ENSP00000356399:p.Glu954del						p.GE952del	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3096_3098	+			952			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	In_Frame_Del	DEL	ENST00000367429.4	37	c.2856_2858delAGA	CCDS1385.1																																																																																				0.384	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		12	66						12	66	---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:33813402delT	ENST00000238823.8	-	4	662	c.522delA	c.(520-522)aaa>aa	p.K174fs	FAM98A_ENST00000403368.1_Splice_Site_p.K174fs|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	174							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.e4+1		family with sequence similarity 98, member A							158.0	159.0	159.0					2																	33813402		2203	4300	6503	SO:0001630	splice_region_variant	25940							g.chr2:33813402delT		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.522+1A>-	2.37:g.33813402delT						FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice	p.K174_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			4	591	-	all_hematologic(175;0.115)		175					B2RNA2|Q9Y3Y6	Splice_Site	DEL	ENST00000238823.8	37	c.522_splice	CCDS33179.1																																																																																				0.338	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	Frame_Shift_Del	17	55						17	55	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cacfs	p.H257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)cafs		coiled-coil domain containing 74A							103.0	106.0	105.0					2																	132290249		2203	4300	6503	SO:0001589	frameshift_variant	90557							g.chr2:132290249delC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.771delC	2.37:g.132290249delC	ENSP00000295171:p.His257fs					CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	p.H257fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	909	+			257					Q6P4I5	Frame_Shift_Del	DEL	ENST00000295171.6	37	c.771delC	CCDS2167.1																																																																																				0.602	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		19	171						19	171	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610612	179610612	+	Intron	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179610612delA	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.F5505fs|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_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)			CCTGAAATTCAAAAAAACTGT	0.378																																						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.(16513-16515)ttfs		titin							113.0	109.0	110.0					2																	179610612		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610612delA	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.10361-3964T>-	2.37:g.179610612delA						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	p.F5505fs	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	16737	-			8982			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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.16515delT																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	72						9	72	---	---	---	---
THUMPD3-AS1	440944	broad.mit.edu	37	3	9390687	9390687	+	RNA	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:9390687delC	ENST00000468186.1	-	0	6506				RP11-380O24.1_ENST00000466431.2_RNA|RP11-380O24.1_ENST00000491930.2_RNA|RP11-380O24.1_ENST00000517846.1_RNA|RP11-380O24.1_ENST00000518331.1_RNA																							ATGGCAACAGCCCCCCGGGCA	0.517																																						ENST00000491930.2																			0																																																			0							g.chr3:9390687delC																													3.37:g.9390687delC						RP11-380O24.1_ENST00000518331.1_RNA								0	190	-									RNA	DEL	ENST00000468186.1	37																																																																																						0.517	SETD5-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000378422.1			12	50						12	50	---	---	---	---
ZNF385D	79750	broad.mit.edu	37	3	21792397	21792398	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:21792397_21792398delTA	ENST00000281523.2	-	1	529_530	c.11_12delTA	c.(10-12)atafs	p.I4fs	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	4						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAAAATACATTATGTTTCTCAT	0.47																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(10-12)afs		zinc finger protein 385D				1,4265		0,1,2132						5.5	1.0			83	0,8254		0,0,4127	no	frameshift	ZNF385D	NM_024697.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21792397_21792398delTA	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.11_12delTA	3.37:g.21792397_21792398delTA	ENSP00000281523:p.Ile4fs					ZNF385D_ENST00000494118.1_Intron	p.I4fs	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			1	529_530	-			4						Frame_Shift_Del	DEL	ENST00000281523.2	37	c.11_12delTA	CCDS2636.1																																																																																				0.470	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	51						10	51	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52412624	52412624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:52412624delC	ENST00000420323.2	+	47	7466	c.7205delC	c.(7204-7206)gccfs	p.A2402fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2402	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGCTGGGGCCCCCCACATT	0.627																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7204-7206)gcfs		dynein, axonemal, heavy chain 1							84.0	94.0	91.0					3																	52412624		1959	4153	6112	SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52412624delC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7205delC	3.37:g.52412624delC	ENSP00000401514:p.Ala2402fs						p.A2402fs	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	47	7466	+			2402			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	c.7205delC	CCDS46842.1																																																																																				0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	187						11	187	---	---	---	---
NR1I2	8856	broad.mit.edu	37	3	119536021	119536021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:119536021delC	ENST00000337940.4	+	9	1432	c.1384delC	c.(1384-1386)cccfs	p.P462fs	NR1I2_ENST00000466380.1_Frame_Shift_Del_p.P386fs|NR1I2_ENST00000393716.2_Frame_Shift_Del_p.P423fs	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	423					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTTTGCTACGCCCCTCATGCA	0.617																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(1267-1269)ccfs		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						97.0	93.0	95.0					3																	119536021		2203	4300	6503	SO:0001589	frameshift_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119536021delC	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1384delC	3.37:g.119536021delC	ENSP00000336528:p.Pro462fs					NR1I2_ENST00000466380.1_Frame_Shift_Del_p.P386fs|NR1I2_ENST00000337940.4_Frame_Shift_Del_p.P462fs	p.P423fs	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	9	3106	+			423			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Frame_Shift_Del	DEL	ENST00000337940.4	37	c.1267delC	CCDS2995.1																																																																																				0.617	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			22	95						22	95	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2698177	2698177	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2698177delA	ENST00000324666.5	+	16	2842	c.2491delA	c.(2491-2493)aaafs	p.K832fs	FAM193A_ENST00000382839.3_Frame_Shift_Del_p.K832fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.K832fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.K854fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.K832fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	832										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAGCAACCTAAAAAAATGGA	0.453																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2491-2493)aafs		family with sequence similarity 193, member A							130.0	123.0	125.0					4																	2698177		2203	4300	6503	SO:0001589	frameshift_variant	8603							g.chr4:2698177delA	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2491delA	4.37:g.2698177delA	ENSP00000324587:p.Lys832fs					FAM193A_ENST00000545951.1_Frame_Shift_Del_p.K832fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.K832fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.K854fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.K832fs	p.K832fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			16	2842	+			832					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.2491delA	CCDS58875.1																																																																																				0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		11	48						11	48	---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39230192	39230193	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:39230192_39230193delAC	ENST00000399820.3	+	17	2018_2019	c.1864_1865delAC	c.(1864-1866)acafs	p.T622fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.T462fs|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	622					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GACCTGCCAAACACAGAGTGGA	0.441																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1864-1866)afs		WD repeat domain 19																																				SO:0001589	frameshift_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230192_39230193delAC	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1864_1865delAC	4.37:g.39230194_39230195delAC	ENSP00000382717:p.Thr622fs					WDR19_ENST00000288634.7_Frame_Shift_Del_p.T462fs|WDR19_ENST00000515631.1_3'UTR	p.T622fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			17	2018_2019	+			622					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Frame_Shift_Del	DEL	ENST00000399820.3	37	c.1864_1865delAC	CCDS47042.1																																																																																				0.441	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			12	72						12	72	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		9	36						9	36	---	---	---	---
PRIMPOL	201973	broad.mit.edu	37	4	185593424	185593424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:185593424delT	ENST00000314970.6	+	7	1087	c.654delT	c.(652-654)catfs	p.H218fs	PRIMPOL_ENST00000503752.1_Frame_Shift_Del_p.H218fs|PRIMPOL_ENST00000515774.1_Frame_Shift_Del_p.H89fs|PRIMPOL_ENST00000512834.1_Frame_Shift_Del_p.H218fs	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	218					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										GATTTCCCCATTTTTCAGAAG	0.408																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(652-654)cafs									89.0	93.0	92.0					4																	185593424		2203	4300	6503	SO:0001589	frameshift_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185593424delT	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.654delT	4.37:g.185593424delT	ENSP00000313816:p.His218fs					CCDC111_ENST00000503752.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000512834.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000515774.1_Frame_Shift_Del_p.H89fs	p.H218fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	7	1087	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	218					D3DP55|D6RDM1|Q5HYJ9	Frame_Shift_Del	DEL	ENST00000314970.6	37	c.654delT	CCDS3837.1																																																																																				0.408	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		9	64						9	64	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032804	4032806	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:4032804_4032806delAAG	ENST00000337659.6	+	2	1153_1155	c.1053_1055delAAG	c.(1051-1056)aaaaga>aaa	p.R353del	PRPF4B_ENST00000538861.1_In_Frame_Del_p.R339del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	353	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGTCCTAAAAGAAGAAGTTTG	0.414																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1051-1056)aaa>aa		pre-mRNA processing factor 4B																																				SO:0001651	inframe_deletion	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032804_4032806delAAG	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1053_1055delAAG	6.37:g.4032810_4032812delAAG	ENSP00000337194:p.Arg353del					PRPF4B_ENST00000538861.1_In_Frame_Del_p.KR337del	p.KR351del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	1153_1155	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	351			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	In_Frame_Del	DEL	ENST00000337659.6	37	c.1053_1055delAAG	CCDS4488.1																																																																																				0.414	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			14	81						14	81	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30550275	30550276	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30550275_30550276insA	ENST00000326195.8	+	9	895_896	c.783_784insA	c.(784-786)aaafs	p.K262fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	262					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.45																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(781-786)ctaaaafs		ATP-binding cassette, sub-family F (GCN20), member 1																																				SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30550275_30550276insA	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.789dupA	6.37:g.30550281_30550281dupA	ENSP00000313603:p.Lys262fs					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron	p.LK261fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			9	895_896	+			261					A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	c.783_784insA	CCDS34380.1																																																																																				0.450	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			14	46						14	46	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-	rs76774128		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					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)	p.P11fs*11(1)		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)			TTGGAGGACTCCCCCCCTTGT	0.567																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	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.(25-27)tcfs		hypocretin (orexin) receptor 2							101.0	96.0	98.0					6																	55039411		2203	4300	6503	SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039411delC	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.26delC	6.37:g.55039411delC	ENSP00000359899:p.Ser9fs						p.S9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Del	DEL	ENST00000370862.3	37	c.26delC	CCDS4956.1																																																																																				0.567	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			30	139						30	139	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	96999786	96999786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:96999786delA	ENST00000369278.4	+	17	2038	c.1972delA	c.(1972-1974)aaafs	p.K659fs		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	659					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAGGGGAGACAAAAAAAGGGA	0.338																																						ENST00000369278.4																			0											c.(1972-1974)aafs		UFM1-specific ligase 1							82.0	92.0	89.0					6																	96999786		2203	4298	6501	SO:0001589	frameshift_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96999786delA	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1972delA	6.37:g.96999786delA	ENSP00000358283:p.Lys659fs						p.K659fs	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			17	2038	+			659					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Frame_Shift_Del	DEL	ENST00000369278.4	37	c.1972delA	CCDS5034.1																																																																																				0.338	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		10	65						10	65	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23207467	23207468	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:23207467_23207468delTG	ENST00000339077.5	+	9	1433_1434	c.1190_1191delTG	c.(1189-1191)ctgfs	p.L397fs	KLHL7_ENST00000539124.1_Frame_Shift_Del_p.L321fs|KLHL7_ENST00000322231.7_Frame_Shift_Del_p.L375fs|KLHL7_ENST00000409689.1_Frame_Shift_Del_p.L349fs|KLHL7_ENST00000542558.1_Frame_Shift_Del_p.L172fs|KLHL7_ENST00000545443.1_Frame_Shift_Del_p.L375fs	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	397					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTCAGCTCTGTATTTATTTG	0.465																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1123-1125)cfs		kelch-like family member 7																																				SO:0001589	frameshift_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207467_23207468delTG		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1190_1191delTG	7.37:g.23207467_23207468delTG	ENSP00000343273:p.Leu397fs					KLHL7_ENST00000339077.4_Frame_Shift_Del_p.L397fs|KLHL7_ENST00000542558.1_Frame_Shift_Del_p.L172fs|KLHL7_ENST00000539124.1_Frame_Shift_Del_p.L321fs|KLHL7_ENST00000545443.1_Frame_Shift_Del_p.L375fs|KLHL7_ENST00000409689.1_Frame_Shift_Del_p.L349fs	p.L375fs			Q8IXQ5	KLHL7_HUMAN			10	1614_1615	+			397					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Frame_Shift_Del	DEL	ENST00000339077.5	37	c.1124_1125delTG	CCDS34609.1																																																																																				0.465	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		7	36						7	36	---	---	---	---
UPK3B	80761	broad.mit.edu	37	7	76140012	76140014	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:76140012_76140014delCTC	ENST00000257632.5	+	1	171_173	c.43_45delCTC	c.(43-45)ctcdel	p.L17del	UPK3B_ENST00000419923.2_In_Frame_Del_p.L17del|UPK3B_ENST00000334348.3_In_Frame_Del_p.L17del|UPK3B_ENST00000394849.1_In_Frame_Del_p.L17del|UPK3B_ENST00000443097.2_In_Frame_Del_p.L17del|UPK3B_ENST00000448265.3_In_Frame_Del_p.L17del			Q9BT76	UPK3B_HUMAN	uroplakin 3B	17					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGCAGATGCTCCTCCTGGCGT	0.695																																						ENST00000419923.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8						c.(43-45)del		uroplakin 3B																																				SO:0001651	inframe_deletion	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76140012_76140014delCTC	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.43_45delCTC	7.37:g.76140015_76140017delCTC	ENSP00000257632:p.Leu17del					UPK3B_ENST00000394849.1_In_Frame_Del_p.L17del|UPK3B_ENST00000443097.2_In_Frame_Del_p.L17del|UPK3B_ENST00000334348.3_In_Frame_Del_p.L17del|UPK3B_ENST00000257632.5_In_Frame_Del_p.L17del|UPK3B_ENST00000448265.3_In_Frame_Del_p.L17del	p.L17del			Q9BT76	UPK3B_HUMAN			1	268_270	+		Myeloproliferative disorder(862;0.204)	17					A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	In_Frame_Del	DEL	ENST00000257632.5	37	c.43_45delCTC	CCDS5588.1																																																																																				0.695	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		13	28						13	28	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100357988	100357991	+	RNA	DEL	TCTC	TCTC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100357988_100357991delTCTC	ENST00000348028.3	+	0	3861				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCTGTCTGTCTCTTGCCTCTGC	0.583																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100357988_100357991delTCTC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100357988_100357991delTCTC						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3844	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.583	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	72						8	72	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150656679delG	ENST00000262186.5	-	3	854	c.453delC	c.(451-453)cccfs	p.P151fs	KCNH2_ENST00000392968.2_Frame_Shift_Del_p.P55fs|KCNH2_ENST00000430723.3_Frame_Shift_Del_p.P151fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151					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)	p.T152fs*180(1)		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)	GCCAGCTGGTGGGGGGGCCCC	0.587																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			1	Insertion - Frameshift(1)	p.T152fs*180(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	GRCh37	CD001499	KCNH2	D		c.(163-165)ccfs		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)						52.0	51.0	51.0					7																	150656679		2203	4300	6503	SO:0001589	frameshift_variant	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.chr7:150656679delG	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.453delC	7.37:g.150656679delG	ENSP00000262186:p.Pro151fs					KCNH2_ENST00000430723.3_Frame_Shift_Del_p.P151fs|KCNH2_ENST00000262186.5_Frame_Shift_Del_p.P151fs	p.P55fs			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1285	-	all_neural(206;0.219)		151			PAS.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Del	DEL	ENST00000262186.5	37	c.165delC	CCDS5910.1																																																																																				0.587	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		7	63						7	63	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112898442	112898442	+	5'UTR	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:112898442delA	ENST00000259318.7	+	0	132				AKAP2_ENST00000434623.2_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000374525.1_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000510514.5_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000555236.1_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_ENST00000374530.3_Frame_Shift_Del_p.L206fs	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATATCTGGCTAAAAAGCGAGG	0.463																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(616-618)ctfs									68.0	73.0	71.0					9																	112898442		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0						enzyme binding	g.chr9:112898442delA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.-76A>-	9.37:g.112898442delA						AKAP2_ENST00000374525.1_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000259318.7_5'UTR|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000434623.2_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000555236.1_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000510514.5_Frame_Shift_Del_p.L206fs	p.L206fs	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	798	+			197					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Frame_Shift_Del	DEL	ENST00000259318.7	37	c.618delA	CCDS48003.1																																																																																				0.463	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		12	68						12	68	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)accfs	p.T2147fs	TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6439-6441)acfs		transforming, acidic coiled-coil containing protein 2							94.0	107.0	103.0					10																	123970380		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970380delC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6440delC	10.37:g.123970380delC	ENSP00000358001:p.Thr2147fs					TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs	p.T2147fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	6780	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2147					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.6440delC	CCDS7626.1																																																																																				0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			29	222						29	222	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118307279	118307281	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118307279_118307281delGGC	ENST00000389506.5	+	1	52_54	c.52_54delGGC	c.(52-54)ggcdel	p.G23del	RP11-770J1.4_ENST00000532619.1_5'Flank|KMT2A_ENST00000354520.4_In_Frame_Del_p.G23del|KMT2A_ENST00000534358.1_In_Frame_Del_p.G23del			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	23	Ala/Gly/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GACCAccgggggcggcggcggcg	0.798																																						ENST00000534358.1																			0											c.(52-54)del		lysine (K)-specific methyltransferase 2A			,	2,1460		0,2,729					,	1.4	1.0			3	30,3348		6,18,1665	no	coding,coding	MLL	NM_005933.3,NM_001197104.1	,	6,20,2394	A1A1,A1R,RR		0.8881,0.1368,0.6612	,	,		32,4808				SO:0001651	inframe_deletion	4297							g.chr11:118307279_118307281delGGC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.52_54delGGC	11.37:g.118307288_118307290delGGC	ENSP00000374157:p.Gly23del					KMT2A_ENST00000389506.5_In_Frame_Del_p.G23del|KMT2A_ENST00000354520.4_In_Frame_Del_p.G23del	p.G23del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					1	75_77	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	In_Frame_Del	DEL	ENST00000389506.5	37	c.52_54delGGC	CCDS31686.1																																																																																				0.798	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		2	4						2	4	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909636	123909636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:123909636delG	ENST00000330487.5	-	1	81	c.73delC	c.(73-75)ctcfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25						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(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		ATTCCAAAGAGGGGGGCGTCC	0.567																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(73-75)tcfs		olfactory receptor, family 10, subfamily G, member 7							94.0	91.0	92.0					11																	123909636		2200	4299	6499	SO:0001589	frameshift_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909636delG	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.73delC	11.37:g.123909636delG	ENSP00000329689:p.Leu25fs						p.L25fs	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	81	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					Q6IFE8	Frame_Shift_Del	DEL	ENST00000330487.5	37	c.73delC	CCDS31705.1																																																																																				0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		12	80						12	80	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:2968088delG	ENST00000359843.3	-	9	2076	c.2008delC	c.(2008-2010)cttfs	p.L670fs	FOXM1_ENST00000342628.2_Frame_Shift_Del_p.L708fs|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|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)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2122-2124)ttfs		forkhead box M1							44.0	50.0	48.0					12																	2968088		2203	4300	6503	SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968088delG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2008delC	12.37:g.2968088delG	ENSP00000352901:p.Leu670fs					FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs|ITFG2_ENST00000545509.1_Intron	p.L708fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2235	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Del	DEL	ENST00000359843.3	37	c.2122delC	CCDS8515.1																																																																																				0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		13	52						13	52	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6161823	6161823	+	Frame_Shift_Del	DEL	G	G	-	rs267607309		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6161823delG	ENST00000261405.5	-	16	2326	c.2072delC	c.(2071-2073)ccafs	p.P691fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	691	TIL 2.				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)	GTAGAGCCCTGGGGGGCAGAA	0.607																																						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.(2071-2073)cafs		von Willebrand factor	Antihemophilic Factor(DB00025)						72.0	68.0	69.0					12																	6161823		2203	4300	6503	SO:0001589	frameshift_variant	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.chr12:6161823delG		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.2072delC	12.37:g.6161823delG	ENSP00000261405:p.Pro691fs						p.P691fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			16	2326	-			691			TIL 2.		Q8TCE8|Q99806	Frame_Shift_Del	DEL	ENST00000261405.5	37	c.2072delC	CCDS8539.1																																																																																				0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	72						8	72	---	---	---	---
VAMP1	6843	broad.mit.edu	37	12	6579696	6579697	+	Splice_Site	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6579696_6579697insT	ENST00000396308.3	-	1	146_147	c.1_2insA	c.(1-3)atg>aAtg	p.M1fs	VAMP1_ENST00000535180.1_Splice_Site_p.M1fs|VAMP1_ENST00000400911.3_Splice_Site_p.M1fs|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000361716.3_Splice_Site_p.M1fs	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	1					neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GTCAACTCACATTTTTCTGACA	0.609																																						ENST00000361716.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e1+1		vesicle-associated membrane protein 1 (synaptobrevin 1)	Botulinum Toxin Type B(DB00042)																																			SO:0001630	splice_region_variant	0				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	g.chr12:6579696_6579697insT		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.2+1->A	12.37:g.6579701_6579701dupT						VAMP1_ENST00000396308.3_Splice_Site_p.V1_splice|VAMP1_ENST00000535180.1_Splice_Site_p.V1_splice|VAMP1_ENST00000400911.3_Splice_Site_p.V1_splice|VAMP1_ENST00000544432.1_5'UTR	p.V1_splice			P23763	VAMP1_HUMAN			1	456_457	-			1					A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Splice_Site	INS	ENST00000396308.3	37	c.2_splice	CCDS41740.1																																																																																				0.609	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1		Frame_Shift_Ins	7	42						7	42	---	---	---	---
FAM60A	58516	broad.mit.edu	37	12	31448178	31448178	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31448178delT	ENST00000337682.4	-	3	586	c.218delA	c.(217-219)aacfs	p.N73fs	FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Frame_Shift_Del_p.N73fs|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	73					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					ATGATTCCAGTTTTTTTTTGA	0.358																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(217-219)acfs		family with sequence similarity 60, member A							82.0	76.0	78.0					12																	31448178		2203	4300	6503	SO:0001589	frameshift_variant	58516							g.chr12:31448178delT	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.218delA	12.37:g.31448178delT	ENSP00000337477:p.Asn73fs					FAM60A_ENST00000454658.2_Frame_Shift_Del_p.N73fs|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000395766.1_5'UTR	p.N73fs	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN			3	586	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		73					D3DUV8|Q9BSZ8	Frame_Shift_Del	DEL	ENST00000337682.4	37	c.218delA	CCDS8723.1																																																																																				0.358	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		7	14						7	14	---	---	---	---
H3F3C	440093	broad.mit.edu	37	12	31944698	31944699	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31944698_31944699delCT	ENST00000340398.3	-	1	476_477	c.402_403delAG	c.(400-405)agagctfs	p.RA134fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	134					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCACTTAAGCTCTCTCTCCCC	0.406										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(400-405)agctfs		H3 histone, family 3C																																				SO:0001589	frameshift_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944698_31944699delCT	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.402_403delAG	12.37:g.31944704_31944705delCT	ENSP00000339835:p.Arg134fs	HNSCC(67;0.2)					p.RA134fs	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	476_477	-			134					E9P281	Frame_Shift_Del	DEL	ENST00000340398.3	37	c.402_403delAG	CCDS31769.1																																																																																				0.406	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		12	68						12	68	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49442461	49442462	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49442461_49442462delTC	ENST00000301067.7	-	13	4110_4111	c.4111_4112delGA	c.(4111-4113)gacfs	p.D1371fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1371					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)										GACAAATTTGTCTGTGTTGGAG	0.465																																						ENST00000301067.7																			0											c.(4111-4113)cfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49442461_49442462delTC	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.4111_4112delGA	12.37:g.49442461_49442462delTC	ENSP00000301067:p.Asp1371fs						p.D1371fs	NM_003482.3	NP_003473.3					13	4110_4111	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4111_4112delGA	CCDS44873.1																																																																																				0.465	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	135						35	135	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102158002	102158002	+	Frame_Shift_Del	DEL	T	T	-	rs281865000		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:102158002delT	ENST00000299314.7	-	13	2955	c.2693delA	c.(2692-2694)aagfs	p.K898fs	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	898					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAAATACTTTTTTTTCTC	0.373																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37	GRCh37	CD090839	GNPTAB	D		c.(2692-2694)agfs		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							217.0	214.0	215.0					12																	102158002		2203	4300	6503	SO:0001589	frameshift_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158002delT	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2693delA	12.37:g.102158002delT	ENSP00000299314:p.Lys898fs						p.K898fs	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2955	-			898					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Del	DEL	ENST00000299314.7	37	c.2693delA	CCDS9088.1																																																																																				0.373	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			16	82						16	82	---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:107937778delC	ENST00000280758.5	+	3	1880	c.1352delC	c.(1351-1353)accfs	p.T451fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.T451fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.T451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCAATGGCACCCCCCTGCAC	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1351-1353)acfs		BTB (POZ) domain containing 11							51.0	46.0	48.0					12																	107937778		2203	4300	6503	SO:0001589	frameshift_variant	121551					integral to membrane	DNA binding	g.chr12:107937778delC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1352delC	12.37:g.107937778delC	ENSP00000280758:p.Thr451fs					BTBD11_ENST00000490090.2_Frame_Shift_Del_p.T451fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.T451fs	p.T451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1880	+			451					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Del	DEL	ENST00000280758.5	37	c.1352delC	CCDS31893.1																																																																																				0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		11	38						11	38	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112650410	112650411	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:112650410_112650411delGT	ENST00000430131.2	-	48	7388_7389	c.6243_6244delAC	c.(6241-6246)ccacctfs	p.PP2081fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.PP2331fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.PP2357fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2081					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)										CCCGGAGGAGGTGGAGTCCCCT	0.52																																						ENST00000550722.1																			0											c.(7069-7074)ccctfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112650410_112650411delGT	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.6243_6244delAC	12.37:g.112650410_112650411delGT	ENSP00000404379:p.Pro2081fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.PP2083fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.PP2333fs	p.PP2359fs	NM_001109662.3	NP_001103132.3					49	7466_7467	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.7071_7072delAC																																																																																					0.520	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	51						8	51	---	---	---	---
CCDC92	80212	broad.mit.edu	37	12	124422214	124422216	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422214_124422216delCTT	ENST00000238156.3	-	5	739_741	c.385_387delAAG	c.(385-387)aagdel	p.K129del	CCDC92_ENST00000545891.1_In_Frame_Del_p.K112del|CCDC92_ENST00000545135.1_In_Frame_Del_p.K112del|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	129						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CCTCCAGGTACTTCTTCTCTCGC	0.537																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(334-336)del		coiled-coil domain containing 92																																				SO:0001651	inframe_deletion	80212							g.chr12:124422214_124422216delCTT	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.385_387delAAG	12.37:g.124422217_124422219delCTT	ENSP00000238156:p.Lys129del					CCDC92_ENST00000545891.1_In_Frame_Del_p.K112del|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_In_Frame_Del_p.K129del	p.K112del			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3630_3632	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		129					B3KNQ0|Q9H697	In_Frame_Del	DEL	ENST00000238156.3	37	c.334_336delAAG	CCDS9256.1																																																																																				0.537	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		40	174						40	174	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23913031	23913033	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23913031_23913033delTAC	ENST00000382292.3	-	9	5255_5257	c.4982_4984delGTA	c.(4981-4986)agtacg>acg	p.S1661del	SACS_ENST00000402364.1_In_Frame_Del_p.S911del|SACS_ENST00000382298.3_In_Frame_Del_p.S1661del			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1661					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTAGCACGTACTACTAACTTC	0.384																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4981-4986)acg>a		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001651	inframe_deletion	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913031_23913033delTAC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4982_4984delGTA	13.37:g.23913034_23913036delTAC	ENSP00000371729:p.Ser1661del					SACS_ENST00000382292.3_In_Frame_Del_p.ST1661del|SACS_ENST00000402364.1_In_Frame_Del_p.ST911del	p.ST1661del	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5570_5572	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1661					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	In_Frame_Del	DEL	ENST00000382292.3	37	c.4982_4984delGTA	CCDS9300.2																																																																																				0.384	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		8	44						8	44	---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55818654	55818654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:55818654delG	ENST00000313833.4	+	2	1791	c.1546delG	c.(1546-1548)gggfs	p.G517fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.G517fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	517										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGATGCTGCTGGGGGTGACAG	0.488																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1546-1548)ggfs		F-box protein 34							115.0	116.0	116.0					14																	55818654		2203	4300	6503	SO:0001589	frameshift_variant	55030							g.chr14:55818654delG	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.1546delG	14.37:g.55818654delG	ENSP00000313159:p.Gly517fs					FBXO34_ENST00000440021.1_Frame_Shift_Del_p.G517fs	p.G517fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1791	+			517					Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Del	DEL	ENST00000313833.4	37	c.1546delG	CCDS32086.1																																																																																				0.488	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			32	138						32	138	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824199	74824199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:74824199delC	ENST00000256362.4	+	2	954	c.713delC	c.(712-714)gccfs	p.A238fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	238					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						CAGTACTTTGCCCCTGTGGTG	0.687																																						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.(712-714)gcfs		vertebrae development associated							40.0	41.0	41.0					14																	74824199		2203	4299	6502	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824199delC	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.713delC	14.37:g.74824199delC	ENSP00000256362:p.Ala238fs						p.A238fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	954	+			238					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.713delC	CCDS9830.1																																																																																				0.687	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		10	71						10	71	---	---	---	---
TMED8	283578	broad.mit.edu	37	14	77808302	77808303	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:77808302_77808303delCT	ENST00000216468.7	-	6	844_845	c.789_790delAG	c.(787-792)agaggcfs	p.G264fs		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	264	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.G264fs*30(1)		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)		CTCCTGGAGCCTCTCTCCACAT	0.609																																						ENST00000216468.7																			1	Deletion - Frameshift(1)	p.G264fs*30(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(787-792)aggcfs		transmembrane emp24 protein transport domain containing 8																																				SO:0001589	frameshift_variant	283578				transport	integral to membrane		g.chr14:77808302_77808303delCT	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.789_790delAG	14.37:g.77808306_77808307delCT	ENSP00000216468:p.Gly264fs						p.RG263fs	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	6	844_845	-			263			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Frame_Shift_Del	DEL	ENST00000216468.7	37	c.789_790delAG	CCDS32125.1																																																																																				0.609	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		8	27						8	27	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088050	94088050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:94088050delA	ENST00000393151.2	+	30	4471	c.4471delA	c.(4471-4473)aaafs	p.K1493fs	UNC79_ENST00000555664.1_Frame_Shift_Del_p.K1493fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.K1316fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.K1515fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1493					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						AAGCATTCCGAAAAAAAAGCT	0.398																																						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.(4537-4539)aafs		unc-79 homolog (C. elegans)							69.0	70.0	69.0					14																	94088050		2203	4300	6503	SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:94088050delA	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.4471delA	14.37:g.94088050delA	ENSP00000376858:p.Lys1493fs					UNC79_ENST00000393151.2_Frame_Shift_Del_p.K1493fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.K1316fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.K1493fs	p.K1515fs			Q9P2D8	UNC79_HUMAN			31	4691	+			1493					B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	37	c.4537delA																																																																																					0.398	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		10	56						10	56	---	---	---	---
ASPG	374569	broad.mit.edu	37	14	104571684	104571684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:104571684delG	ENST00000551177.1	+	10	1162	c.1070delG	c.(1069-1071)cggfs	p.R357fs	ASPG_ENST00000546892.2_Frame_Shift_Del_p.R357fs|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Frame_Shift_Del_p.R357fs	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	357					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.E387fs*2(1)|p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AAGGACCTTCGGGGGGAGATG	0.682																																						ENST00000551177.1																			2	Deletion - Frameshift(2)	p.E387fs*2(1)|p.E359fs*2(1)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1069-1071)cgfs		asparaginase homolog (S. cerevisiae)							36.0	42.0	40.0					14																	104571684		2113	4232	6345	SO:0001589	frameshift_variant	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104571684delG		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1070delG	14.37:g.104571684delG	ENSP00000450040:p.Arg357fs					ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Frame_Shift_Del_p.R357fs|ASPG_ENST00000546892.2_Frame_Shift_Del_p.R357fs	p.R357fs	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			10	1162	+			357					B9EGQ2|Q8IV80	Frame_Shift_Del	DEL	ENST00000551177.1	37	c.1070delG	CCDS45170.2																																																																																				0.682	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		13	56						13	56	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25448422	25448422	+	RNA	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:25448422delA	ENST00000424208.1	+	0	2163				SNORD115-17_ENST00000364612.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGATGACTTAAAAATCATTC	0.502																																						ENST00000424208.1																			0																				247.0	257.0	254.0					15																	25448422		876	1989	2865			0							g.chr15:25448422delA			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.25448422delA						SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2163	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.502	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			13	217						13	217	---	---	---	---
PIGB	9488	broad.mit.edu	37	15	55621921	55621922	+	Splice_Site	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:55621921_55621922insT	ENST00000164305.5	+	5	813_814		c.e5-1		PIGB_ENST00000539642.1_Splice_Site	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.e5-1		phosphatidylinositol glycan anchor biosynthesis, class B																																				SO:0001630	splice_region_variant	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55621921_55621922insT	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.523-1->T	15.37:g.55621928_55621928dupT						PIGB_ENST00000539642.1_Splice_Site		NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	5	813_814	+								Q53FF9|Q8WVN7	Splice_Site	INS	ENST00000164305.5	37																																																																																						0.342	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	Intron	16	78						16	78	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93480819	93480819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93480819delA	ENST00000394196.4	+	6	1583	c.515delA	c.(514-516)caafs	p.Q172fs	CHD2_ENST00000420239.2_Frame_Shift_Del_p.Q172fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.Q172fs|CHD2_ENST00000536619.1_Frame_Shift_Del_p.Q185fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	172					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)			GAGCCAGAACAAAAAAAAGTA	0.418																																						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.(514-516)cafs		chromodomain helicase DNA binding protein 2							108.0	105.0	106.0					15																	93480819		2197	4298	6495	SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93480819delA	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.515delA	15.37:g.93480819delA	ENSP00000377747:p.Gln172fs					CHD2_ENST00000536619.1_Frame_Shift_Del_p.Q185fs|CHD2_ENST00000420239.2_Frame_Shift_Del_p.Q172fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.Q172fs	p.Q172fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		6	1583	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		172					C6G482|Q96IP5	Frame_Shift_Del	DEL	ENST00000394196.4	37	c.515delA	CCDS10374.2																																																																																				0.418	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		8	38						8	38	---	---	---	---
TRAP1	10131	broad.mit.edu	37	16	3727584	3727594	+	Frame_Shift_Del	DEL	AGTAGAAACCC	AGTAGAAACCC	-	rs149991698		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3727584_3727594delAGTAGAAACCC	ENST00000246957.5	-	6	697_707	c.609_619delGGGTTTCTACT	c.(607-621)gtgggtttctactcafs	p.GFYS204fs	TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Frame_Shift_Del_p.GFYS151fs	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	204					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				ATGAAAGCTGAGTAGAAACCCACTCCAAACT	0.592																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(607-621)gtcafs		TNF receptor-associated protein 1																																				SO:0001589	frameshift_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3727584_3727594delAGTAGAAACCC	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.609_619delGGGTTTCTACT	16.37:g.3727584_3727594delAGTAGAAACCC	ENSP00000246957:p.Gly204fs					TRAP1_ENST00000538171.1_Frame_Shift_Del_p.VGFYS150fs|TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000573872.1_5'UTR	p.VGFYS203fs	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			6	697_707	-		Ovarian(90;0.0261)	203					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Frame_Shift_Del	DEL	ENST00000246957.5	37	c.609_619delGGGTTTCTACT	CCDS10508.1																																																																																				0.592	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		7	76						7	76	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-	rs147027769		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4944500delG	ENST00000345988.2	-	12	1451	c.1362delC	c.(1360-1362)cccfs	p.P454fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	454					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T455fs*4(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGGTCTGTGGGGGGGATCA	0.612																																						ENST00000345988.2																			1	Insertion - Frameshift(1)	p.T455fs*4(1)	large_intestine(1)	breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1360-1362)ccfs		periplakin							86.0	73.0	77.0					16																	4944500		2197	4300	6497	SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944500delG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1362delC	16.37:g.4944500delG	ENSP00000340510:p.Pro454fs					PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	p.P454fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			12	1451	-			454					O60314|O60454|Q14C98	Frame_Shift_Del	DEL	ENST00000345988.2	37	c.1362delC	CCDS10526.1																																																																																				0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		17	66						17	66	---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67984313	67984315	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67984313_67984315delAAG	ENST00000316341.3	-	12	1676_1678	c.1536_1538delCTT	c.(1534-1539)ttcttt>ttt	p.512_513FF>F	SLC12A4_ENST00000576616.1_In_Frame_Del_p.512_513FF>F|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000338335.3_In_Frame_Del_p.512_513FF>F|SLC12A4_ENST00000541864.2_In_Frame_Del_p.481_482FF>F|SLC12A4_ENST00000572037.1_In_Frame_Del_p.464_465FF>F|SLC12A4_ENST00000422611.2_In_Frame_Del_p.514_515FF>F|SLC12A4_ENST00000537830.2_In_Frame_Del_p.506_507FF>F	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	512					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACACGTTGAAAAGAAGGAGCCGA	0.621																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1540-1545)ttt>tt		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001651	inframe_deletion	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984313_67984315delAAG		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1536_1538delCTT	16.37:g.67984316_67984318delAAG	ENSP00000318557:p.Phe513del					SLC12A4_ENST00000537830.2_In_Frame_Del_p.FF506del|SLC12A4_ENST00000316341.3_In_Frame_Del_p.FF512del|SLC12A4_ENST00000572037.1_In_Frame_Del_p.FF464del|SLC12A4_ENST00000541864.2_In_Frame_Del_p.FF481del|SLC12A4_ENST00000576616.1_In_Frame_Del_p.FF512del|SLC12A4_ENST00000338335.3_In_Frame_Del_p.FF512del	p.FF514del	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1581_1583	-		Ovarian(137;0.192)	512					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	In_Frame_Del	DEL	ENST00000316341.3	37	c.1542_1544delCTT	CCDS10855.1																																																																																				0.621	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		19	43						19	43	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72142749	72142749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72142749delC	ENST00000268482.3	+	24	3815	c.3306delC	c.(3304-3306)cacfs	p.H1102fs	DHX38_ENST00000536867.1_Frame_Shift_Del_p.H414fs	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1102					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCACTTGCACCCCACCAGCT	0.527																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(3304-3306)cafs		DEAH (Asp-Glu-Ala-His) box polypeptide 38							83.0	65.0	71.0					16																	72142749		2198	4300	6498	SO:0001589	frameshift_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142749delC	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3306delC	16.37:g.72142749delC	ENSP00000268482:p.His1102fs					DHX38_ENST00000536867.1_Frame_Shift_Del_p.H414fs	p.H1102fs	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			24	3815	+		Ovarian(137;0.125)	1102					B4DVG8|D3DWS7|O75212|Q96HN7	Frame_Shift_Del	DEL	ENST00000268482.3	37	c.3306delC	CCDS10907.1																																																																																				0.527	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		8	36						8	36	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72991758delC	ENST00000268489.5	-	2	2959	c.2287delG	c.(2287-2289)gagfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					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)				AAGACCTGCTCCCCCCCTCCA	0.622																																						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.(2287-2289)agfs		zinc finger homeobox 3							35.0	37.0	37.0					16																	72991758		2198	4300	6498	SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991758delC	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.2287delG	16.37:g.72991758delC	ENSP00000268489:p.Glu763fs					ZFHX3_ENST00000397992.5_Intron	p.E763fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2959	-		Ovarian(137;0.13)	763					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.2287delG	CCDS10908.1																																																																																				0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	41						21	41	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349355	89349356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89349355_89349356insT	ENST00000301030.4	-	9	4054_4055	c.3594_3595insA	c.(3592-3597)aaagagfs	p.E1199fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.E1199fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1199	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGACTTTCTCTTTTTTGTCTC	0.515																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3592-3597)aaagaafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349355_89349356insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3595dupA	16.37:g.89349361_89349361dupT	ENSP00000301030:p.Glu1199fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.E1199fs	p.E1199fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4054_4055	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1199			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3594_3595insA	CCDS32513.1																																																																																				0.515	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		16	100						16	100	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10360835	10360835	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:10360835delT	ENST00000255381.2	-	16	1909	c.1799delA	c.(1798-1800)aacfs	p.N600fs	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	600	Myosin motor.				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						GGGGTCCTTGTTTTTGTCCAG	0.562																																						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.(1798-1800)acfs		myosin, heavy chain 4, skeletal muscle							95.0	94.0	94.0					17																	10360835		2203	4300	6503	SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360835delT		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.1799delA	17.37:g.10360835delT	ENSP00000255381:p.Asn600fs					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.N600fs	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1909	-			600			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000255381.2	37	c.1799delA	CCDS11154.1																																																																																				0.562	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		11	68						11	68	---	---	---	---
TBC1D26	353149	broad.mit.edu	37	17	15641312	15641313	+	Splice_Site	DEL	AA	AA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15641312_15641313delAA	ENST00000437605.2	+	6	450_451	c.200_201delAA	c.(199-201)caa>c	p.Q67fs	AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Splice_Site_p.Q67fs|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	67							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)		ATTTGACAGCAAAGACGCAAGG	0.54																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.e6-1		TBC1 domain family, member 26																																				SO:0001630	splice_region_variant	353149					intracellular	Rab GTPase activator activity	g.chr17:15641312_15641313delAA		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.199-1AA>-	17.37:g.15641312_15641313delAA						AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Splice_Site_p.Q67_splice|ZNF286A_ENST00000413242.2_3'UTR	p.Q67_splice	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)	6	450_451	+			67					A8K929|Q4G172	Splice_Site	DEL	ENST00000437605.2	37	c.198_splice	CCDS42265.1																																																																																				0.540	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571	Frame_Shift_Del	9	48						9	48	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15973813	15973815	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15973813_15973815delGTT	ENST00000268712.3	-	31	4434_4436	c.4177_4179delAAC	c.(4177-4179)aacdel	p.N1393del	NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_In_Frame_Del_p.N1409del	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1393	Interaction with ETO.				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)		ATTGACCTGAGTTGTTGTCAAAC	0.448																																						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.(4177-4179)del		nuclear receptor corepressor 1																																				SO:0001651	inframe_deletion	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.chr17:15973813_15973815delGTT	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.4177_4179delAAC	17.37:g.15973816_15973818delGTT	ENSP00000268712:p.Asn1393del					NCOR1_ENST00000395851.1_In_Frame_Del_p.N1409del|NCOR1_ENST00000395857.3_5'UTR	p.N1393del	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	31	4434_4436	-			1393			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	In_Frame_Del	DEL	ENST00000268712.3	37	c.4177_4179delAAC	CCDS11175.1																																																																																				0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		12	52						12	52	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:54428180_54428181insA	ENST00000318698.2	+	4	286_287	c.251_252insA	c.(250-255)tcaaaafs	p.SK84fs	ANKFN1_ENST00000566473.2_Frame_Shift_Ins_p.SK84fs	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(250-252)taafs		ankyrin-repeat and fibronectin type III domain containing 1																																				SO:0001589	frameshift_variant	162282							g.chr17:54428180_54428181insA	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.258dupA	17.37:g.54428187_54428187dupA	ENSP00000321627:p.Ser84fs					ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs	p.*84fs			Q8N957	ANKF1_HUMAN			4	251_252	+			84						Frame_Shift_Ins	INS	ENST00000318698.2	37	c.251_252insA	CCDS32686.1																																																																																				0.426	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	62						13	62	---	---	---	---
TBX4	9496	broad.mit.edu	37	17	59560564	59560565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:59560564_59560565insC	ENST00000240335.1	+	8	1370_1371	c.1325_1326insC	c.(1324-1329)ttccccfs	p.FP442fs	TBX4_ENST00000393853.4_Frame_Shift_Ins_p.FP443fs|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	442					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TACCAGCCCTTCCCCACGCACT	0.609																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1327-1329)tccfs		T-box 4																																				SO:0001589	frameshift_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560564_59560565insC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1329dupC	17.37:g.59560568_59560568dupC	ENSP00000240335:p.Phe442fs					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Frame_Shift_Ins_p.S442fs	p.S443fs			P57082	TBX4_HUMAN			9	1491_1492	+			442					A5PKU7|B2RMT1|B7ZLV3	Frame_Shift_Ins	INS	ENST00000240335.1	37	c.1328_1329insC	CCDS11629.1																																																																																				0.609	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		13	102						13	102	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:56246941delA	ENST00000361673.3	-	4	1280	c.1067delT	c.(1066-1068)ttafs	p.L357fs	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	357						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1066-1068)tafs		alpha-kinase 2							94.0	93.0	94.0					18																	56246941		2203	4300	6503	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246941delA	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1067delT	18.37:g.56246941delA	ENSP00000354991:p.Leu357fs		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.L357fs	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1280	-			357					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.1067delT	CCDS11966.2																																																																																				0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		16	56						16	56	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860827	16860827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:16860827delC	ENST00000552788.1	+	4	1374	c.1374delC	c.(1372-1374)tgcfs	p.C458fs	NWD1_ENST00000549814.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.C252fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.C458fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.C323fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.C458fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						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						CTCTCAACTGCCCCCCGAGGG	0.632																																						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.(1372-1374)tgfs		NACHT and WD repeat domain containing 1							71.0	71.0	71.0					19																	16860827		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860827delC	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.1374delC	19.37:g.16860827delC	ENSP00000447224:p.Cys458fs					NWD1_ENST00000552788.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.C252fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.C458fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.C323fs	p.C458fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.1374delC																																																																																					0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		18	79						18	79	---	---	---	---
ZNF30	90075	broad.mit.edu	37	19	35435346	35435347	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:35435346_35435347delTT	ENST00000601142.1	+	5	1713_1714	c.1476_1477delTT	c.(1474-1479)acttttfs	p.F493fs	ZNF30_ENST00000303586.7_Frame_Shift_Del_p.F494fs|ZNF30_ENST00000426813.2_Frame_Shift_Del_p.F412fs|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Frame_Shift_Del_p.F494fs			P17039	ZNF30_HUMAN	zinc finger protein 30	493				F -> L (in Ref. 2; CAE45802). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GTGGAAAGACTTTTAGTCGAGC	0.45																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1477-1482)acttfs		zinc finger protein 30																																				SO:0001589	frameshift_variant	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435346_35435347delTT	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1476_1477delTT	19.37:g.35435348_35435349delTT	ENSP00000469954:p.Phe493fs					ZNF30_ENST00000303586.7_Frame_Shift_Del_p.TF493fs|ZNF30_ENST00000426813.2_Frame_Shift_Del_p.TF411fs|ZNF30_ENST00000601142.1_Frame_Shift_Del_p.TF492fs|ZNF30_ENST00000601957.1_3'UTR	p.TF493fs	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1923_1924	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		492	F -> L (in Ref. 2; CAE45802).				A5PLP1|A8K320|B4DIC0|Q6N068	Frame_Shift_Del	DEL	ENST00000601142.1	37	c.1479_1480delTT	CCDS46045.1																																																																																				0.450	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		12	42						12	42	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47424502	47424502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:47424502delT	ENST00000404338.3	+	1	2570	c.2570delT	c.(2569-2571)gttfs	p.V857fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	857					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)										GGGTACATTGTTTTTTATTCA	0.433																																						ENST00000404338.3																			0											c.(2569-2571)gtfs		Rho GTPase activating protein 35							167.0	162.0	163.0					19																	47424502		1897	4121	6018	SO:0001589	frameshift_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.chr19:47424502delT	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.2570delT	19.37:g.47424502delT	ENSP00000385720:p.Val857fs						p.V857fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2570	+			857					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2570delT	CCDS46127.1																																																																																				0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		13	71						13	71	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52034107	52034107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52034107delG	ENST00000425629.3	-	3	688	c.534delC	c.(532-534)cccfs	p.P178fs	SIGLEC6_ENST00000346477.3_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	178	Ig-like C2-type 1.				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)		AGGAGAAGATGGGGGGCGTCC	0.662																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(532-534)ccfs		sialic acid binding Ig-like lectin 6							70.0	74.0	73.0					19																	52034107		2203	4300	6503	SO:0001589	frameshift_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034107delG	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.534delC	19.37:g.52034107delG	ENSP00000401502:p.Pro178fs					SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs	p.P178fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	602	-		all_neural(266;0.0199)	178			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Frame_Shift_Del	DEL	ENST00000425629.3	37	c.534delC	CCDS12834.3																																																																																				0.662	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		18	103						18	103	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52091407	52091408	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52091407_52091408delCT	ENST00000262259.2	+	5	2181_2182	c.1823_1824delCT	c.(1822-1824)actfs	p.T608fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	608					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATCAAATAACTCACACTAGAG	0.436																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1822-1824)afs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091407_52091408delCT	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1823_1824delCT	19.37:g.52091407_52091408delCT	ENSP00000262259:p.Thr608fs					ZNF175_ENST00000436511.2_Intron	p.T608fs	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2181_2182	+		all_neural(266;0.0299)	608					A8K9H2	Frame_Shift_Del	DEL	ENST00000262259.2	37	c.1823_1824delCT	CCDS12837.1																																																																																				0.436	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		17	122						17	122	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13714387	13714388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13714387_13714388insT	ENST00000202816.1	-	10	2037_2038	c.1930_1931insA	c.(1930-1932)agafs	p.R644fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	644	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTTTTCAGTCTTTTTTTCTCT	0.347																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1930-1932)actfs		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13714387_13714388insT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1931dupA	20.37:g.13714394_13714394dupT	ENSP00000202816:p.Arg644fs						p.T644fs	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			10	2037_2038	-			644			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	37	c.1930_1931insA	CCDS13117.1																																																																																				0.347	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		9	19						9	19	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142442	21142442	+	RNA	DEL	A	A	-	rs113752643|rs570165711	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:21142442delA	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TCATTTCTGGAAAAAAAAAAA	0.363																																						ENST00000591761.1																			0																																																			0							g.chr20:21142442delA																													20.37:g.21142442delA						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.363	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			6	4						6	4	---	---	---	---
CD93	22918	broad.mit.edu	37	20	23065887	23065887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:23065887delC	ENST00000246006.4	-	1	1090	c.943delG	c.(943-945)gccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {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)					ACGCACGTGGCCCCCCCACGA	0.637																																						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.(943-945)ccfs		CD93 molecule							42.0	46.0	45.0					20																	23065887		2203	4300	6503	SO:0001589	frameshift_variant	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.chr20:23065887delC	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.943delG	20.37:g.23065887delC	ENSP00000246006:p.Ala315fs						p.A315fs	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1090	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		315			EGF-like 2.		O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	c.943delG	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		19	75						19	75	---	---	---	---
TCFL5	10732	broad.mit.edu	37	20	61492658	61492658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61492658delC	ENST00000335351.3	-	1	457	c.365delG	c.(364-366)ggcfs	p.G122fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.G74fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	122	Ala-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GTCGATGTGGCCCAGGCAGGG	0.786																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(364-366)gcfs		transcription factor-like 5 (basic helix-loop-helix)							2.0	2.0	2.0					20																	61492658		1420	2888	4308	SO:0001589	frameshift_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61492658delC	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.365delG	20.37:g.61492658delC	ENSP00000334294:p.Gly122fs					TCFL5_ENST00000217162.5_Frame_Shift_Del_p.G74fs	p.G122fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			1	457	-	Breast(26;5.68e-08)		122			Ala-rich.		O94771|Q9BYW0	Frame_Shift_Del	DEL	ENST00000335351.3	37	c.365delG	CCDS13506.1																																																																																				0.786	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		2	4						2	4	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61981807	61981808	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61981807_61981808insG	ENST00000370263.4	-	5	1176_1177	c.955_956insC	c.(955-957)ctgfs	p.L319fs	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	319					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GACGATGGACAGGGTGACGAAG	0.599																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(955-957)gtcfs		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)																																			SO:0001589	frameshift_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981807_61981808insG		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.956dupC	20.37:g.61981810_61981810dupG	ENSP00000359285:p.Leu319fs					CHRNA4_ENST00000463705.1_5'UTR	p.V319fs	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1176_1177	-	all_cancers(38;1.71e-10)		319					Q4JGR7|Q4VAQ5|Q4VAQ6	Frame_Shift_Ins	INS	ENST00000370263.4	37	c.955_956insC	CCDS13517.1																																																																																				0.599	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			14	90						14	90	---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37741614	37741614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:37741614delA	ENST00000400485.1	+	15	2024	c.1948delA	c.(1948-1950)aaafs	p.K651fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	651					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTAGTTGTTAAAAAAGAAGA	0.448																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1948-1950)aafs		MORC family CW-type zinc finger 3							111.0	108.0	109.0					21																	37741614		1942	4149	6091	SO:0001589	frameshift_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741614delA	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1948delA	21.37:g.37741614delA	ENSP00000383333:p.Lys651fs					MORC3_ENST00000487909.1_3'UTR	p.K651fs	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2024	+			651					A8KA92|Q9UEZ2	Frame_Shift_Del	DEL	ENST00000400485.1	37	c.1948delA	CCDS42924.1																																																																																				0.448	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		15	68						15	68	---	---	---	---
TEX33	339669	broad.mit.edu	37	22	37387299	37387299	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37387299delT	ENST00000405091.2	-	7	1015	c.764delA	c.(763-765)aatfs	p.N255fs	TEX33_ENST00000402860.3_Frame_Shift_Del_p.N170fs|TEX33_ENST00000381821.1_Frame_Shift_Del_p.N255fs			O43247	TEX33_HUMAN	testis expressed 33	255																	GTTCATAGCATTTTTCTGGTG	0.493																																						ENST00000405091.2																			0											c.(763-765)atfs		testis expressed 33							141.0	135.0	137.0					22																	37387299		2203	4300	6503	SO:0001589	frameshift_variant	339669							g.chr22:37387299delT	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.764delA	22.37:g.37387299delT	ENSP00000386118:p.Asn255fs					TEX33_ENST00000381821.1_Frame_Shift_Del_p.N255fs|TEX33_ENST00000402860.3_Frame_Shift_Del_p.N170fs	p.N255fs			O43247	EAN57_HUMAN			7	1015	-			255					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Frame_Shift_Del	DEL	ENST00000405091.2	37	c.764delA	CCDS54524.1																																																																																				0.493	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		7	53						7	53	---	---	---	---
RPL3	6122	broad.mit.edu	37	22	39712828	39712830	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39712828_39712830delCTT	ENST00000216146.4	-	4	555_557	c.382_384delAAG	c.(382-384)aagdel	p.K128del	SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000465618.1_5'UTR|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000401609.1_In_Frame_Del_p.K76del|SNORD83B_ENST00000386745.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	128					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)	TGGTAAAGGCCTTCTTCTTAGAT	0.547											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(382-384)del		ribosomal protein L3																																				SO:0001651	inframe_deletion	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39712828_39712830delCTT	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.382_384delAAG	22.37:g.39712834_39712836delCTT	ENSP00000346001:p.Lys128del		OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	887	RPL3_ENST00000401609.1_In_Frame_Del_p.K76del|RPL3_ENST00000465618.1_5'UTR	p.K128del	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			4	555_557	-	Melanoma(58;0.04)		128					B2RDV9|Q15548|Q5I0G0	In_Frame_Del	DEL	ENST00000216146.4	37	c.382_384delAAG	CCDS13988.1																																																																																				0.547	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		10	80						10	80	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040|rs563910	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418																																						ENST00000412436.1																			0																																																			0							g.chrX:154578865delG																													X.37:g.154578865delG						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			3	5						3	5	---	---	---	---
