#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
CHD4	1108	broad.mit.edu	37	12	6700638	6700638	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:6700638A>G	ENST00000357008.2	-	22	3497	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L	CHD4_ENST00000544040.1_Missense_Mutation_p.F1105L|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109L|CHD4_ENST00000309577.6_Missense_Mutation_p.F1112L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCACCATTGAAGCGGTCAATG	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3334-3336)Ttc>Ctc		chromodomain helicase DNA binding protein 4							148.0	126.0	133.0					12																	6700638		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700638A>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3334T>C	12.37:g.6700638A>G	ENSP00000349508:p.Phe1112Leu					CHD4_ENST00000357008.2_Missense_Mutation_p.F1112L|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109L|CHD4_ENST00000544040.1_Missense_Mutation_p.F1105L	p.F1112L			Q14839	CHD4_HUMAN			22	3497	-			1112			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3334T>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172337	0.78452	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	H	0.94503	3.545	0.80722	D	1	D;D;P	0.76494	0.992;0.999;0.954	D;D;D	0.85130	0.984;0.997;0.943	D	0.97134	0.9820	10	0.87932	D	0	.	14.9841	0.71332	1.0:0.0:0.0:0.0	.	1112;1112;1105	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	1109;1105;1112;1112;1086	ENSP00000440392:F1109L;ENSP00000440542:F1105L;ENSP00000312419:F1112L;ENSP00000349508:F1112L	ENSP00000312419:F1112L	F	-	1	0	CHD4	6570899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.117000	0.94347	1.951000	0.56629	0.533000	0.62120	TTC		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		32	33	0	0	0	1	0	32	33				
HLA-C	3107	broad.mit.edu	37	6	31237836	31237836	+	Missense_Mutation	SNP	T	T	C	rs281860578		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr6:31237836T>C	ENST00000376228.5	-	5	936	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HLA-C_ENST00000383329.3_Missense_Mutation_p.I308V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	308	Connecting peptide.				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)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCCCATGATGGGGATGGTG	0.612																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(922-924)Atc>Gtc		major histocompatibility complex, class I, C							44.0	44.0	44.0					6																	31237836		2198	4295	6493	SO:0001583	missense	3107				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 membrane|MHC class I protein complex		g.chr6:31237836T>C	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.922A>G	6.37:g.31237836T>C	ENSP00000365402:p.Ile308Val					HLA-C_ENST00000376228.5_Missense_Mutation_p.I308V	p.I308V			Q9TNN7	1C05_HUMAN			5	936	-			308			Connecting peptide.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.922A>G	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	4.273	0.049833	0.08243	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00768	5.72;5.74	2.67	0.0835	0.14433	Immunoglobulin-like fold (1);	.	.	.	.	T	0.00440	0.0014	L	0.53617	1.68	0.09310	N	1	B;B;B;P	0.35908	0.343;0.343;0.343;0.527	B;B;B;B	0.41946	0.158;0.112;0.158;0.371	T	0.45571	-0.9252	9	0.87932	D	0	.	2.8857	0.05660	0.0:0.1529:0.2649:0.5822	.	308;308;308;308	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	308;308;308;345	ENSP00000365402:I308V;ENSP00000372819:I308V	ENSP00000365402:I308V	I	-	1	0	HLA-C	31345815	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.119000	0.15626	0.025000	0.15241	0.248000	0.18094	ATC		0.612	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		14	48	0	0	0	1	0	14	48				
ANKRD12	23253	broad.mit.edu	37	18	9281098	9281098	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:9281098G>T	ENST00000262126.4	+	13	6403	c.6163G>T	c.(6163-6165)Gac>Tac	p.D2055Y	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2032Y|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D2032Y	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2055						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATGTTAACGACGACTTTGA	0.408																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(6094-6096)Gac>Tac		ankyrin repeat domain 12							160.0	151.0	154.0					18																	9281098		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9281098G>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6163G>T	18.37:g.9281098G>T	ENSP00000262126:p.Asp2055Tyr					ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2032Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.D2055Y	p.D2032Y	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			12	6351	+			2055					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.6094G>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888317	0.72524	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.75821	-0.96;-0.97	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87165	0.2217	10	0.87932	D	0	-21.2976	19.6028	0.95570	0.0:0.0:1.0:0.0	.	2032;2055	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Y	2032;2055	ENSP00000372932:D2032Y;ENSP00000262126:D2055Y	ENSP00000262126:D2055Y	D	+	1	0	ANKRD12	9271098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.648000	0.89879	0.591000	0.81541	GAC		0.408	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		44	64	1	0	3.76604e-16	1	4.09352e-16	44	64				
OXGR1	27199	broad.mit.edu	37	13	97639792	97639792	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:97639792G>A	ENST00000298440.1	-	4	465	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OXGR1_ENST00000543457.1_Silent_p.N74N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	74					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCAGGCCAGGTTCAGCATAA	0.458																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(220-222)aaC>aaT		oxoglutarate (alpha-ketoglutarate) receptor 1							108.0	100.0	103.0					13																	97639792		2203	4300	6503	SO:0001819	synonymous_variant	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639792G>A	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.222C>T	13.37:g.97639792G>A						OXGR1_ENST00000543457.1_Silent_p.N74N	p.N74N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	465	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		74					Q5T5A7|Q86TL1	Silent	SNP	ENST00000298440.1	37	c.222C>T	CCDS9482.1																																																																																				0.458	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		34	40	0	0	0	1	0	34	40				
AHNAK	79026	broad.mit.edu	37	11	62293943	62293943	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:62293943G>T	ENST00000378024.4	-	5	8220	c.7946C>A	c.(7945-7947)cCt>cAt	p.P2649H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2649					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGAAGCCAGGCATGCTGAA	0.527																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7945-7947)cCt>cAt		AHNAK nucleoprotein							187.0	188.0	188.0					11																	62293943		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293943G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7946C>A	11.37:g.62293943G>T	ENSP00000367263:p.Pro2649His					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2649H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8220	-		Melanoma(852;0.155)	2649					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7946C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	17.92	3.505910	0.64410	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03035	4.07	4.31	4.31	0.51392	.	.	.	.	.	T	0.29126	0.0724	H	0.95470	3.675	0.29387	N	0.862907	D	0.89917	1.0	D	0.91635	0.999	T	0.43877	-0.9364	9	0.87932	D	0	-4.8802	16.4116	0.83717	0.0:0.0:1.0:0.0	.	2649	Q09666	AHNK_HUMAN	H	738;2649	ENSP00000367263:P2649H	ENSP00000244934:P738H	P	-	2	0	AHNAK	62050519	.	.	1.000000	0.80357	0.978000	0.69477	.	.	1.950000	0.56595	0.479000	0.44913	CCT		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		49	240	1	0	7.88023e-25	1	9.09257e-25	49	240				
DCLK1	9201	broad.mit.edu	37	13	36686233	36686233	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:36686233G>A	ENST00000360631.3	-	3	707	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	DCLK1_ENST00000255448.4_Silent_p.L166L|DCLK1_ENST00000379892.4_Silent_p.L166L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	166					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCAGTGGCCAGTGAAGACACT	0.537																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(496-498)Ctg>Ttg		doublecortin-like kinase 1							89.0	88.0	89.0					13																	36686233		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686233G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.496C>T	13.37:g.36686233G>A						DCLK1_ENST00000379892.4_Silent_p.L166L|DCLK1_ENST00000360631.3_Silent_p.L166L	p.L166L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	707	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	166					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.496C>T																																																																																					0.537	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		58	58	0	0	0	1	0	58	58				
TMTC4	84899	broad.mit.edu	37	13	101315367	101315367	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:101315367T>C	ENST00000376234.3	-	4	535	c.346A>G	c.(346-348)Agt>Ggt	p.S116G	TMTC4_ENST00000342624.5_Missense_Mutation_p.S135G|TMTC4_ENST00000328767.5_Intron	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	116						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGATGCCACTGTGCAGGAGG	0.597																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(403-405)Agt>Ggt		transmembrane and tetratricopeptide repeat containing 4							80.0	85.0	83.0					13																	101315367		2139	4241	6380	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101315367T>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.346A>G	13.37:g.101315367T>C	ENSP00000365408:p.Ser116Gly					TMTC4_ENST00000376234.3_Missense_Mutation_p.S116G|TMTC4_ENST00000328767.5_Intron	p.S135G	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			5	661	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		116					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.403A>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	2.354	-0.348073	0.05208	.	.	ENSG00000125247	ENST00000376234;ENST00000342624	D;D	0.94046	-3.34;-3.34	4.91	-4.47	0.03525	.	0.420899	0.29558	N	0.011802	T	0.77405	0.4125	N	0.05078	-0.115	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.69405	-0.5154	10	0.14252	T	0.57	.	5.5916	0.17303	0.3228:0.2374:0.0:0.4398	.	116;135	Q5T4D3;Q5T4D3-3	TMTC4_HUMAN;.	G	116;135	ENSP00000365408:S116G;ENSP00000343871:S135G	ENSP00000343871:S135G	S	-	1	0	TMTC4	100113368	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.177000	0.09796	-0.781000	0.04548	-1.044000	0.02363	AGT		0.597	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		49	138	0	0	0	1	0	49	138				
TGFB1	7040	broad.mit.edu	37	19	41848131	41848131	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:41848131A>C	ENST00000221930.5	-	4	1522	c.656T>G	c.(655-657)cTt>cGt	p.L219R		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	219	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GTGGGCGCTAAGGCGAAAGCC	0.592																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(655-657)cTt>cGt		transforming growth factor, beta 1	Hyaluronidase(DB00070)						80.0	66.0	71.0					19																	41848131		2203	4300	6503	SO:0001583	missense	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41848131A>C	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.656T>G	19.37:g.41848131A>C	ENSP00000221930:p.Leu219Arg						p.L219R	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			4	1522	-			219					A8K792|Q9UCG4	Missense_Mutation	SNP	ENST00000221930.5	37	c.656T>G	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987023	0.74589	.	.	ENSG00000105329	ENST00000221930	T	0.72167	-0.63	5.0	5.0	0.66597	Transforming growth factor-beta, N-terminal (1);	0.219455	0.39083	N	0.001480	T	0.80783	0.4689	M	0.64997	1.995	0.47698	D	0.999496	D	0.71674	0.998	D	0.73380	0.98	T	0.82733	-0.0311	10	0.87932	D	0	-12.713	12.377	0.55285	1.0:0.0:0.0:0.0	.	219	P01137	TGFB1_HUMAN	R	219	ENSP00000221930:L219R	ENSP00000221930:L219R	L	-	2	0	TGFB1	46539971	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.649000	0.61433	2.112000	0.64535	0.454000	0.30748	CTT		0.592	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			20	14	0	0	0	1	0	20	14				
IL1RL2	8808	broad.mit.edu	37	2	102805588	102805588	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:102805588T>C	ENST00000264257.2	+	3	237	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Silent_p.P37P|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	37	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCAGCCTTTTGCTTTTA	0.343																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(109-111)ccT>ccC		interleukin 1 receptor-like 2							85.0	84.0	85.0					2																	102805588		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805588T>C	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.111T>C	2.37:g.102805588T>C						IL1RL2_ENST00000539491.1_Silent_p.P37P|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	p.P37P	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			3	237	+			37			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.111T>C	CCDS2056.1																																																																																				0.343	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		18	24	0	0	0	1	0	18	24				
F10	2159	broad.mit.edu	37	13	113777240	113777240	+	Splice_Site	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:113777240G>A	ENST00000375559.3	+	1	108		c.e1+1		F10_ENST00000409306.1_Splice_Site|F10_ENST00000483537.1_Splice_Site|F10_ENST00000375551.3_Splice_Site	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGGAAAGTCGTAAGTGCCCC	0.662																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CS054887	F10	S		c.e1+1		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						61.0	43.0	49.0					13																	113777240		2202	4300	6502	SO:0001630	splice_region_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113777240G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.70+1G>A	13.37:g.113777240G>A						F10_ENST00000483537.1_Splice_Site|F10_ENST00000409306.1_Splice_Site|F10_ENST00000375551.3_Splice_Site		NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		1	108	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)						Q14340	Splice_Site	SNP	ENST00000375559.3	37		CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867200	0.17250	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.494	0.61414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	F10	112825241	0.988000	0.35896	0.790000	0.31976	0.012000	0.07955	2.990000	0.49401	2.117000	0.64856	0.467000	0.42956	.		0.662	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		Intron	35	19	0	0	0	1	0	35	19				
TACC2	10579	broad.mit.edu	37	10	123844141	123844141	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:123844141G>T	ENST00000369005.1	+	4	2466	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	TACC2_ENST00000453444.2_Missense_Mutation_p.R709I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R709I|TACC2_ENST00000515603.1_Missense_Mutation_p.R709I|TACC2_ENST00000334433.3_Missense_Mutation_p.R709I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	709					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)				GGATTGGGAAGAATGGAGTCT	0.527																																						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.(2125-2127)aGa>aTa		transforming, acidic coiled-coil containing protein 2							48.0	53.0	51.0					10																	123844141		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844141G>T	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.2126G>T	10.37:g.123844141G>T	ENSP00000358001:p.Arg709Ile					TACC2_ENST00000515603.1_Missense_Mutation_p.R709I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R709I|TACC2_ENST00000453444.2_Missense_Mutation_p.R709I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R709I	p.R709I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2466	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	709					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2126G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836653	0.50951	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03745	3.87;3.83;3.82;3.87;3.83	4.59	0.122	0.14702	.	1.377760	0.05162	N	0.497932	T	0.02727	0.0082	L	0.29908	0.895	0.09310	N	1	P;P;P	0.42620	0.785;0.785;0.785	B;B;B	0.34452	0.183;0.183;0.183	T	0.35624	-0.9781	10	0.66056	D	0.02	1.9328	1.3978	0.02264	0.1924:0.3096:0.3321:0.1659	.	709;709;709	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	I	709;709;709;709;709;699	ENSP00000358001:R709I;ENSP00000424467:R709I;ENSP00000427618:R709I;ENSP00000334280:R709I;ENSP00000395048:R709I	ENSP00000334280:R709I	R	+	2	0	TACC2	123834131	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.128000	0.10531	-0.291000	0.09012	0.561000	0.74099	AGA		0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			31	20	1	0	3.80469e-20	1	4.32352e-20	31	20				
TTC7B	145567	broad.mit.edu	37	14	91142978	91142978	+	Missense_Mutation	SNP	C	C	A	rs559075706		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:91142978C>A	ENST00000328459.6	-	9	1162	c.1041G>T	c.(1039-1041)agG>agT	p.R347S	RP11-661G16.1_ENST00000554967.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.R347S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	347										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTTCAGGTATCCTGCTCAGCA	0.527																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(1039-1041)agG>agT		tetratricopeptide repeat domain 7B							151.0	119.0	130.0					14																	91142978		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91142978C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1041G>T	14.37:g.91142978C>A	ENSP00000336127:p.Arg347Ser					TTC7B_ENST00000328459.6_Missense_Mutation_p.R347S	p.R347S			Q86TV6	TTC7B_HUMAN			9	1162	-		Melanoma(154;0.222)	347					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1041G>T	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.107675|3.107675	0.56291|0.56291	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000554462|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	.|T;T	.|0.45276	.|1.59;0.9	5.15|5.15	3.31|3.31	0.37934|0.37934	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60457|0.60457	0.2270|0.2270	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|D	.|0.69824	.|0.966	T|T	0.59742|0.59742	-0.7397|-0.7397	5|10	.|0.59425	.|D	.|0.04	-11.154|-11.154	8.6711|8.6711	0.34152|0.34152	0.0:0.7027:0.0:0.2973|0.0:0.7027:0.0:0.2973	.|.	.|347	.|Q86TV6	.|TTC7B_HUMAN	Y|S	17|245;347;347;89	.|ENSP00000349564:R347S;ENSP00000336127:R347S	.|ENSP00000336127:R347S	D|R	-|-	1|3	0|2	TTC7B|TTC7B	90212731|90212731	0.998000|0.998000	0.40836|0.40836	0.982000|0.982000	0.44146|0.44146	0.562000|0.562000	0.35680|0.35680	0.535000|0.535000	0.23114|0.23114	0.554000|0.554000	0.29061|0.29061	0.563000|0.563000	0.77884|0.77884	GAT|AGG		0.527	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			58	70	1	0	7.50695e-29	1	8.79721e-29	58	70				
UBXN7	26043	broad.mit.edu	37	3	196094903	196094903	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:196094903C>T	ENST00000296328.4	-	8	904	c.830G>A	c.(829-831)cGt>cAt	p.R277H	UBXN7_ENST00000428095.1_Missense_Mutation_p.R115H|UBXN7_ENST00000535858.1_Missense_Mutation_p.R129H	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	277						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACTTACTGAACGGGCACATTT	0.383																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(829-831)cGt>cAt		UBX domain protein 7							149.0	137.0	140.0					3																	196094903		1852	4093	5945	SO:0001583	missense	26043						protein binding	g.chr3:196094903C>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.830G>A	3.37:g.196094903C>T	ENSP00000296328:p.Arg277His					UBXN7_ENST00000428095.1_Missense_Mutation_p.R115H|UBXN7_ENST00000535858.1_Missense_Mutation_p.R129H	p.R277H	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			8	904	-			277					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.830G>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499491	0.85176	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.61686	-0.7012	9	0.38643	T	0.18	-9.8923	14.207	0.65741	0.0:0.9282:0.0:0.0718	.	277	O94888	UBXN7_HUMAN	H	277;115;129	.	ENSP00000296328:R277H	R	-	2	0	UBXN7	197579300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.658000	0.74407	1.451000	0.47736	-0.150000	0.13652	CGT		0.383	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		34	31	0	0	0	1	0	34	31				
PCDHA7	56141	broad.mit.edu	37	5	140215891	140215891	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140215891C>T	ENST00000525929.1	+	1	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.D641D|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGACGGACGCACCGCGCC	0.662																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1921-1923)gaC>gaT									77.0	80.0	79.0					5																	140215891		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140215891C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1923C>T	5.37:g.140215891C>T						PCDHA7_ENST00000378125.3_Silent_p.D641D|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.D641D	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1923	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1923C>T	CCDS54918.1																																																																																				0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		30	117	0	0	0	1	0	30	117				
CCDC141	285025	broad.mit.edu	37	2	179702420	179702420	+	Nonsense_Mutation	SNP	G	G	A	rs143765782	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:179702420G>A	ENST00000420890.2	-	23	3643	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.R601*|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1176										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTGGTAGTCGCTCTTCCCCT	0.483																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3526-3528)Cga>Tga		coiled-coil domain containing 141		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		3526	0.4	0.0	2	dbSNP_134	86	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained	CCDC141	NM_173648.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1176/1531	179702420	4,13002	2203	4300	6503	SO:0001587	stop_gained	285025						protein binding	g.chr2:179702420G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3526C>T	2.37:g.179702420G>A	ENSP00000395995:p.Arg1176*					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Nonsense_Mutation_p.R601*	p.R1176*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3643	-			601					H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37	c.3526C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.454400	0.98296	2.27E-4	3.49E-4	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	5.57	0.424	0.16468	.	1.161330	0.06400	N	0.718730	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.0065	1.8743	0.03215	0.1314:0.2841:0.2806:0.304	.	.	.	.	X	1176;620;601	.	ENSP00000295723:R601X	R	-	1	2	CCDC141	179410665	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.367000	0.20382	-0.002000	0.14469	-0.321000	0.08615	CGA		0.483	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		36	54	0	0	0	1	0	36	54				
CCDC107	203260	broad.mit.edu	37	9	35660818	35660818	+	Silent	SNP	T	T	C	rs533224381	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:35660818T>C	ENST00000426546.2	+	5	552	c.486T>C	c.(484-486)gaT>gaC	p.D162D	CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000327351.2_Nonstop_Mutation_p.*156Q|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000378409.3_Silent_p.D162D|ARHGEF39_ENST00000378387.3_3'UTR|RMRP_ENST00000602361.1_lincRNA|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	162						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCAAGATAGCAAGCCGG	0.537													T|||	6	0.00119808	0.0	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.0061					ENST00000327351.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(466-468)Tag>Cag		coiled-coil domain containing 107							126.0	136.0	132.0					9																	35660818		2203	4300	6503	SO:0001819	synonymous_variant	203260					integral to membrane		g.chr9:35660818T>C	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.486T>C	9.37:g.35660818T>C						ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000426546.2_Silent_p.D162D|CCDC107_ENST00000378409.3_Silent_p.D162D	p.*156Q			Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	529	+	all_epithelial(49;0.217)		0					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Nonstop_Mutation	SNP	ENST00000426546.2	37	c.466T>C	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.677291	0.00102	.	.	ENSG00000159884	ENST00000327351	.	.	.	5.23	-10.5	0.00291	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3059	9.0245	0.36220	0.078:0.1288:0.6554:0.1377	.	.	.	.	Q	156	.	.	X	+	1	0	CCDC107	35650818	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.435000	0.02423	-2.476000	0.00526	-2.337000	0.00247	TAG		0.537	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		107	149	0	0	0	1	0	107	149				
PTCHD2	57540	broad.mit.edu	37	1	11589625	11589625	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11589625C>T	ENST00000294484.6	+	14	2949	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	PTCHD2_ENST00000389575.3_Silent_p.F937F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	937					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCTGTACTTCGCCCAGTCCC	0.652																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(2809-2811)ttC>ttT		patched domain containing 2							55.0	62.0	60.0					1																	11589625		2025	4181	6206	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589625C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2811C>T	1.37:g.11589625C>T						PTCHD2_ENST00000389575.3_Silent_p.F937F	p.F937F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	14	2949	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	937					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.2811C>T	CCDS41247.1																																																																																				0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		39	106	0	0	0	1	0	39	106				
NIPA2	81614	broad.mit.edu	37	15	23006811	23006811	+	Silent	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23006811A>G	ENST00000337451.3	-	8	1105	c.493T>C	c.(493-495)Tta>Cta	p.L165L	NIPA2_ENST00000359727.4_Silent_p.L146L|NIPA2_ENST00000398014.2_Silent_p.L165L|NIPA2_ENST00000398013.3_Silent_p.L165L|NIPA2_ENST00000539711.2_Silent_p.L146L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	165						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		ACGAAGATTAATATCAAGGCC	0.448																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(493-495)Tta>Cta		non imprinted in Prader-Willi/Angelman syndrome 2							66.0	59.0	61.0					15																	23006811		2203	4300	6503	SO:0001819	synonymous_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006811A>G	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.493T>C	15.37:g.23006811A>G						NIPA2_ENST00000359727.4_Silent_p.L146L|NIPA2_ENST00000398014.2_Silent_p.L165L|NIPA2_ENST00000398013.3_Silent_p.L165L|NIPA2_ENST00000539711.2_Silent_p.L146L	p.L165L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1105	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	165					F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.493T>C	CCDS10010.1																																																																																				0.448	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		13	43	0	0	0	1	0	13	43				
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T	rs367793699		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	359	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGGTCTCGCAGGGGCGA	0.498										HNSCC(64;0.19)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		19101	0.0		0.0	False		,,,				2504	0.0					ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1075-1077)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	LYS/GLU	0,4406		0,0,2203	127.0	129.0	128.0		1075	6.2	1.0	5		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/1595	33658404	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658404C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1075G>A	5.37:g.33658404C>T	ENSP00000422554:p.Glu359Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K|ADAMTS12_ENST00000504582.1_5'UTR	p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			7	1410	-			359			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1075G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756516	0.96898	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.86366	-2.11;-2.11	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.044361	0.85682	D	0.000000	D	0.93334	0.7875	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.969;0.997	D	0.92414	0.5940	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	359;359	P58397-3;P58397	.;ATS12_HUMAN	K	359	ENSP00000422554:E359K;ENSP00000344847:E359K	ENSP00000344847:E359K	E	-	1	0	ADAMTS12	33694161	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	108	0	0	0	1	0	6	108				
RGS12	6002	broad.mit.edu	37	4	3432185	3432185	+	Missense_Mutation	SNP	G	G	A	rs375895098		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:3432185G>A	ENST00000344733.5	+	17	4521	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	RGS12_ENST00000336727.3_Missense_Mutation_p.R1206H|RGS12_ENST00000306648.7_Missense_Mutation_p.V553M|RGS12_ENST00000538395.1_Missense_Mutation_p.V497M|RGS12_ENST00000382788.3_Missense_Mutation_p.R1206H|RGS12_ENST00000338806.4_Missense_Mutation_p.R558H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1206	GoLoco. {ECO:0000255|PROSITE- ProRule:PRU00097}.				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)		GATGACCAACGTGGGCTGCTA	0.493																																						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.(3616-3618)cGt>cAt		regulator of G-protein signaling 12		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	136.0	110.0	119.0		3617,1673,3617	4.8	1.0	4		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RGS12	NM_002926.3,NM_198227.1,NM_198229.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1206/1377,558/800,1206/1448	3432185	1,13005	2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432185G>A	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.3617G>A	4.37:g.3432185G>A	ENSP00000339381:p.Arg1206His					RGS12_ENST00000306648.7_Missense_Mutation_p.V553M|RGS12_ENST00000338806.4_Missense_Mutation_p.R558H|RGS12_ENST00000382788.3_Missense_Mutation_p.R1206H|RGS12_ENST00000344733.5_Missense_Mutation_p.R1206H|RGS12_ENST00000538395.1_Missense_Mutation_p.V497M	p.R1206H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4521	+			1206			GoLoco.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3617G>A	CCDS3366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.554848|3.554848	0.65425|0.65425	0.0|0.0	1.16E-4|1.16E-4	ENSG00000159788|ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806|ENST00000306648;ENST00000538395	T;T;T;T|T;T	0.80123|0.38722	-0.65;-0.68;-0.68;-1.34|1.12;1.19	4.76|4.76	4.76|4.76	0.60689|0.60689	GoLoco motif (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45915|0.45915	0.1366|0.1366	M|M	0.74647|0.74647	2.275|2.275	0.36793|0.36793	D|D	0.884963|0.884963	D;D;D;D|P;P	0.89917|0.43024	1.0;1.0;1.0;1.0|0.798;0.798	D;D;D;D|B;B	0.97110|0.38327	1.0;1.0;1.0;1.0|0.128;0.271	T|T	0.62742|0.62742	-0.6790|-0.6790	10|9	0.87932|0.52906	D|T	0|0.07	-24.5127|-24.5127	16.7743|16.7743	0.85547|0.85547	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	548;558;1206;1206|497;553	O14924-2;O14924-3;O14924;O14924-4|B7Z764;Q8WX95	.;.;RGS12_HUMAN;.|.;.	H|M	1206;1206;1206;558|553;497	ENSP00000339381:R1206H;ENSP00000338509:R1206H;ENSP00000372238:R1206H;ENSP00000342133:R558H|ENSP00000304459:V553M;ENSP00000438888:V497M	ENSP00000338509:R1206H|ENSP00000304459:V553M	R|V	+|+	2|1	0|0	RGS12|RGS12	3401983|3401983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.405000|9.405000	0.97313|0.97313	2.193000|2.193000	0.70182|0.70182	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.493	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		33	84	0	0	0	1	0	33	84				
CTSC	1075	broad.mit.edu	37	11	88027241	88027241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:88027241C>T	ENST00000227266.5	-	7	1439	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	442					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCCTCTGCGGATCCGGAA	0.498																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(1324-1326)cGc>cAc		cathepsin C							84.0	77.0	80.0					11																	88027241		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88027241C>T	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1325G>A	11.37:g.88027241C>T	ENSP00000227266:p.Arg442His						p.R442H	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			7	1439	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	442					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.1325G>A	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609178	0.87258	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.84223	-1.82	5.97	1.67	0.24075	Peptidase C1A, papain C-terminal (2);	0.094127	0.85682	D	0.000000	D	0.89808	0.6822	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	0.999;1.0	D;P	0.65233	0.933;0.881	D	0.88794	0.3280	9	.	.	.	.	15.6124	0.76737	0.4648:0.5352:0.0:0.0	.	425;442	B4DJQ8;P53634	.;CATC_HUMAN	H	425;442	ENSP00000227266:R442H	.	R	-	2	0	CTSC	87666889	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.189000	0.42621	0.360000	0.24265	0.655000	0.94253	CGC		0.498	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		36	46	0	0	0	1	0	36	46				
ABR	29	broad.mit.edu	37	17	915093	915093	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:915093G>T	ENST00000302538.5	-	19	2240	c.2094C>A	c.(2092-2094)ttC>ttA	p.F698L	ABR_ENST00000543210.2_Missense_Mutation_p.F149L|ABR_ENST00000536794.2_Missense_Mutation_p.F480L|ABR_ENST00000574437.1_Missense_Mutation_p.F652L|ABR_ENST00000544583.2_Missense_Mutation_p.F652L|ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.F661L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	698	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)		CACTGGCATCGAAGACGGCCT	0.647																																					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.(1954-1956)ttC>ttA		active BCR-related							151.0	116.0	128.0					17																	915093		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.chr17:915093G>T	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.2094C>A	17.37:g.915093G>T	ENSP00000303909:p.Phe698Leu					ABR_ENST00000291107.2_Missense_Mutation_p.F661L|ABR_ENST00000302538.5_Missense_Mutation_p.F698L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.F149L|ABR_ENST00000536794.2_Missense_Mutation_p.F480L|ABR_ENST00000574437.1_Missense_Mutation_p.F652L	p.F652L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2555	-			698			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1956C>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962637	0.53400	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.75	-5.41	0.02648	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.057000	0.64402	N	0.000001	T	0.19685	0.0473	L	0.45137	1.4	0.37504	D	0.916861	B;B;B;B;P;B	0.37708	0.202;0.015;0.032;0.002;0.606;0.357	B;B;B;B;P;B	0.45998	0.23;0.013;0.017;0.002;0.5;0.383	T	0.07443	-1.0772	10	0.66056	D	0.02	.	9.7605	0.40530	0.397:0.1121:0.4909:0.0	.	480;149;306;661;608;698	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	L	698;652;661;480;149;307	ENSP00000303909:F698L;ENSP00000442048:F652L;ENSP00000291107:F661L;ENSP00000437429:F480L;ENSP00000445198:F149L	ENSP00000291107:F661L	F	-	3	2	ABR	861843	0.004000	0.15560	0.915000	0.36163	0.837000	0.47467	-0.703000	0.05063	-1.097000	0.03042	-1.003000	0.02500	TTC		0.647	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			15	22	1	0	3.35478e-16	1	3.70012e-16	15	22				
TSPAN33	340348	broad.mit.edu	37	7	128806668	128806668	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:128806668A>T	ENST00000289407.4	+	6	618	c.509A>T	c.(508-510)tAt>tTt	p.Y170F	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	170					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGAACATGTATTTCAACTGC	0.527																																						ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(508-510)tAt>tTt		tetraspanin 33							270.0	241.0	251.0					7																	128806668		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128806668A>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.509A>T	7.37:g.128806668A>T	ENSP00000289407:p.Tyr170Phe						p.Y170F	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			6	618	+			170						Missense_Mutation	SNP	ENST00000289407.4	37	c.509A>T	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908417	0.92107	.	.	ENSG00000158457	ENST00000289407	T	0.79454	-1.27	5.79	5.79	0.91817	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.70842	2.15	0.80722	D	1	D	0.64830	0.994	D	0.72982	0.979	D	0.87391	0.2363	10	0.56958	D	0.05	-18.3869	14.0849	0.64949	1.0:0.0:0.0:0.0	.	170	Q86UF1	TSN33_HUMAN	F	170	ENSP00000289407:Y170F	ENSP00000289407:Y170F	Y	+	2	0	TSPAN33	128593904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.796000	0.91877	2.208000	0.71279	0.533000	0.62120	TAT		0.527	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		103	73	0	0	0	1	0	103	73				
ADAMTS7	11173	broad.mit.edu	37	15	79059182	79059182	+	Missense_Mutation	SNP	T	T	C	rs143974743		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:79059182T>C	ENST00000388820.4	-	19	3281	c.3071A>G	c.(3070-3072)cAc>cGc	p.H1024R	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1024					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H1024R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCAGGTGGTGCGGGATGAA	0.682																																						ENST00000388820.4																			2	Substitution - Missense(2)	p.H1024R(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3070-3072)cAc>cGc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							17.0	17.0	17.0					15																	79059182		2183	4259	6442	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059182T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3071A>G	15.37:g.79059182T>C	ENSP00000373472:p.His1024Arg					ADAMTS7_ENST00000566303.1_5'UTR	p.H1024R	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3281	-			1024					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3071A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	0.666	-0.803681	0.02841	.	.	ENSG00000136378	ENST00000388820	T	0.57907	0.37	4.83	-9.16	0.00694	.	2.217080	0.02333	N	0.074160	T	0.19046	0.0457	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	10	0.10636	T	0.68	.	5.4954	0.16799	0.0918:0.2428:0.0964:0.5689	.	1024	Q9UKP4	ATS7_HUMAN	R	1024	ENSP00000373472:H1024R	ENSP00000373472:H1024R	H	-	2	0	ADAMTS7	76846237	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.261000	0.02855	-2.841000	0.00335	-2.713000	0.00133	CAC		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		6	30	0	0	0	1	0	6	30				
KIAA2013	90231	broad.mit.edu	37	1	11985518	11985518	+	Silent	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11985518C>A	ENST00000376572.3	-	1	962	c.777G>T	c.(775-777)gtG>gtT	p.V259V	KIAA2013_ENST00000376576.3_Silent_p.V259V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	259						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCAGGTGCACCAACCCAG	0.647																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(775-777)gtG>gtT		KIAA2013							10.0	10.0	10.0					1																	11985518		2187	4243	6430	SO:0001819	synonymous_variant	90231					integral to membrane		g.chr1:11985518C>A	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.777G>T	1.37:g.11985518C>A						KIAA2013_ENST00000376576.3_Silent_p.V259V	p.V259V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	962	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	259					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.777G>T	CCDS141.1																																																																																				0.647	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		20	16	1	0	3.51602e-12	1	3.7141e-12	20	16				
C11orf30	56946	broad.mit.edu	37	11	76234280	76234280	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:76234280C>T	ENST00000529032.1	+	11	1766	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	C11orf30_ENST00000343878.3_Missense_Mutation_p.T589M|C11orf30_ENST00000533248.1_Missense_Mutation_p.T603M|C11orf30_ENST00000525038.1_Missense_Mutation_p.T604M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T590M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T604M|C11orf30_ENST00000334736.3_Missense_Mutation_p.T589M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T505M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	589	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAAAAGGAACGACCATTCAA	0.438																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1765-1767)aCg>aTg		chromosome 11 open reading frame 30							110.0	101.0	104.0					11																	76234280		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76234280C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1766C>T	11.37:g.76234280C>T	ENSP00000432327:p.Thr589Met					C11orf30_ENST00000334736.3_Missense_Mutation_p.T589M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T604M|C11orf30_ENST00000343878.3_Missense_Mutation_p.T589M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T590M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T505M|C11orf30_ENST00000525038.1_Missense_Mutation_p.T604M|C11orf30_ENST00000533248.1_Missense_Mutation_p.T603M	p.T589M			Q7Z589	EMSY_HUMAN			11	1766	+			589			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1766C>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000463	0.74818	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.43	5.43	0.79202	.	0.096393	0.64402	D	0.000001	T	0.62356	0.2421	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P	0.57846	0.828;0.762;0.762;0.826;0.828;0.826	T	0.63664	-0.6586	9	0.48119	T	0.1	-4.2025	19.2358	0.93858	0.0:1.0:0.0:0.0	.	603;604;604;590;505;589	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	M	505;589;589;604;603;590;604;589	.	ENSP00000334130:T589M	T	+	2	0	C11orf30	75911928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.554000	0.86153	0.655000	0.94253	ACG		0.438	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		35	40	0	0	0	1	0	35	40				
FAM213A	84293	broad.mit.edu	37	10	82187209	82187209	+	Missense_Mutation	SNP	G	G	T	rs142605674		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:82187209G>T	ENST00000372181.1	+	4	1003	c.533G>T	c.(532-534)gGc>gTc	p.G178V	FAM213A_ENST00000372187.5_Missense_Mutation_p.G178V|FAM213A_ENST00000372188.1_Missense_Mutation_p.G178V|FAM213A_ENST00000372185.1_Missense_Mutation_p.G167V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	178					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GAAGGAGAAGGCTTCATCCTT	0.507																																						ENST00000372181.1																			0											c.(532-534)gGc>gTc		family with sequence similarity 213, member A		G	VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	123.0	105.0	111.0		533	6.0	1.0	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	C10orf58	NM_032333.4	109	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	178/230	82187209	1,13005	2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82187209G>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.533G>T	10.37:g.82187209G>T	ENSP00000361254:p.Gly178Val					FAM213A_ENST00000372187.5_Missense_Mutation_p.G178V|FAM213A_ENST00000372185.1_Missense_Mutation_p.G167V|FAM213A_ENST00000372188.1_Missense_Mutation_p.G178V	p.G178V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			4	1003	+			178					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.533G>T	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105552	0.94245	2.27E-4	0.0	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67810	-0.5574	10	0.31617	T	0.26	0.2543	17.9177	0.88957	0.0:0.0:1.0:0.0	.	178	Q9BRX8	PAMM_HUMAN	V	178;178;167;178	ENSP00000361262:G178V;ENSP00000361261:G178V;ENSP00000361259:G167V;ENSP00000361254:G178V	ENSP00000361254:G178V	G	+	2	0	C10orf58	82177189	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.447000	0.97595	2.828000	0.97474	0.655000	0.94253	GGC		0.507	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			13	31	1	0	0.00136819	1	0.00138668	13	31				
CCDC88B	283234	broad.mit.edu	37	11	64111779	64111779	+	Missense_Mutation	SNP	C	C	A	rs201313417	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:64111779C>A	ENST00000356786.5	+	14	1810	c.1766C>A	c.(1765-1767)cCg>cAg	p.P589Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	589						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						CAGGAGTCCCCGGAGAAGGCT	0.647																																						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.(1765-1767)cCg>cAg		coiled-coil domain containing 88B							35.0	40.0	38.0					11																	64111779		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111779C>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.1766C>A	11.37:g.64111779C>A	ENSP00000349238:p.Pro589Gln					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.P589Q	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1810	+			589					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1766C>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	9.658	1.143492	0.21205	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.21734	1.99	3.78	-7.36	0.01417	.	.	.	.	.	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	0.999999	P;B;P	0.44776	0.843;0.337;0.843	B;B;B	0.40134	0.32;0.054;0.32	T	0.26258	-1.0108	9	0.13853	T	0.58	.	2.523	0.04684	0.1325:0.392:0.2684:0.2072	.	589;238;589	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	Q	589	ENSP00000349238:P589Q	ENSP00000349238:P589Q	P	+	2	0	CCDC88B	63868355	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-1.592000	0.02098	-0.927000	0.03766	-0.714000	0.03626	CCG		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		47	51	1	0	6.4771e-29	1	7.71083e-29	47	51				
FAT3	120114	broad.mit.edu	37	11	92531160	92531160	+	Missense_Mutation	SNP	G	G	A	rs374952944		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:92531160G>A	ENST00000298047.6	+	9	4998	c.4981G>A	c.(4981-4983)Gtc>Atc	p.V1661I	FAT3_ENST00000525166.1_Missense_Mutation_p.V1511I|FAT3_ENST00000409404.2_Missense_Mutation_p.V1661I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1661	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGCATTTCCGTCACCATGTC	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4981-4983)Gtc>Atc		FAT atypical cadherin 3		G	ILE/VAL	1,3983		0,1,1991	107.0	106.0	106.0		4981	4.9	1.0	11		106	2,8322		0,2,4160	no	missense	FAT3	NM_001008781.2	29	0,3,6151	AA,AG,GG		0.024,0.0251,0.0244	benign	1661/4558	92531160	3,12305	1992	4162	6154	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531160G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4981G>A	11.37:g.92531160G>A	ENSP00000298047:p.Val1661Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V1661I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1511I	p.V1661I			Q8TDW7	FAT3_HUMAN			9	4998	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1661			Cadherin 15.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4981G>A		.	.	.	.	.	.	.	.	.	.	G	14.66	2.602742	0.46423	2.51E-4	2.4E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61510	0.1;0.1;0.1	5.83	4.91	0.64330	.	.	.	.	.	T	0.46171	0.1379	L	0.46741	1.465	0.80722	D	1	B	0.19706	0.038	B	0.12156	0.007	T	0.33954	-0.9848	9	0.17832	T	0.49	.	9.0225	0.36209	0.0748:0.0:0.7781:0.1471	.	1661	Q8TDW7-3	.	I	1661;1661;1511	ENSP00000298047:V1661I;ENSP00000387040:V1661I;ENSP00000432586:V1511I	ENSP00000298047:V1661I	V	+	1	0	FAT3	92170808	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	4.721000	0.61951	1.452000	0.47756	0.591000	0.81541	GTC		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		22	66	0	0	0	1	0	22	66				
INADL	10207	broad.mit.edu	37	1	62586895	62586895	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:62586895G>A	ENST00000371158.2	+	38	5047	c.4933G>A	c.(4933-4935)Gct>Act	p.A1645T	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1645					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCCCTCCTTCGCTCCTGTCAT	0.507																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4933-4935)Gct>Act		InaD-like (Drosophila)							105.0	114.0	111.0					1																	62586895		2080	4218	6298	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62586895G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4933G>A	1.37:g.62586895G>A	ENSP00000360200:p.Ala1645Thr					INADL_ENST00000472512.1_3'UTR	p.A1645T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			38	5047	+			1645					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4933G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504592	0.26949	.	.	ENSG00000132849	ENST00000371158	T	0.11277	2.79	5.93	3.04	0.35103	PDZ/DHR/GLGF (1);	0.470343	0.21602	N	0.071940	T	0.05273	0.0140	N	0.14661	0.345	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.42882	-0.9425	10	0.13470	T	0.59	.	7.183	0.25784	0.1489:0.1403:0.7108:0.0	.	1645	Q8NI35	INADL_HUMAN	T	1645	ENSP00000360200:A1645T	ENSP00000360200:A1645T	A	+	1	0	INADL	62359483	0.016000	0.18221	0.002000	0.10522	0.004000	0.04260	1.421000	0.34815	0.843000	0.35070	0.655000	0.94253	GCT		0.507	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		49	53	0	0	0	1	0	49	53				
OR4A16	81327	broad.mit.edu	37	11	55110833	55110833	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:55110833T>C	ENST00000314721.2	+	1	207	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L53V(1)		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						CAGCCCCTCCTTGGGCTCCCT	0.408																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.L53V(1)	lung(1)	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.(157-159)Ttg>Ctg		olfactory receptor, family 4, subfamily A, member 16							124.0	120.0	121.0					11																	55110833		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110833T>C	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.157T>C	11.37:g.55110833T>C							p.L53L	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	207	+			53					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.157T>C	CCDS31499.1																																																																																				0.408	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		29	103	0	0	0	1	0	29	103				
ERBB2IP	55914	broad.mit.edu	37	5	65370850	65370850	+	Splice_Site	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:65370850A>G	ENST00000284037.5	+	23	4145		c.e23-1		ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380943.2_Splice_Site	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGTTTTTCTTAGATGCCTTTG	0.398																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.e23-1		erbb2 interacting protein							49.0	52.0	51.0					5																	65370850		2202	4300	6502	SO:0001630	splice_region_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65370850A>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3757-1A>G	5.37:g.65370850A>G						ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site		NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4145	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)						A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	37		CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953048	0.73902	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3492	0.83195	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65406606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.546000	0.90661	2.266000	0.75297	0.528000	0.53228	.		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Intron	30	18	0	0	0	1	0	30	18				
CYP2E1	1571	broad.mit.edu	37	10	135346210	135346210	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:135346210T>C	ENST00000463117.2	+	7	935	c.663T>C	c.(661-663)ttT>ttC	p.F221F	CYP2E1_ENST00000252945.3_Silent_p.F221F|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	221					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	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, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|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)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAATAATTTTCCCAGCTTTC	0.378									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(661-663)ttT>ttC		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						133.0	148.0	143.0					10																	135346210		2203	4300	6503	SO:0001819	synonymous_variant	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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|oxygen binding	g.chr10:135346210T>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.663T>C	10.37:g.135346210T>C						CYP2E1_ENST00000252945.3_Silent_p.F221F|SPRN_ENST00000541506.1_Intron	p.F221F			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	935	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	221					Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	c.663T>C	CCDS7686.1																																																																																				0.378	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		5	154	0	0	0	1	0	5	154				
TPX2	22974	broad.mit.edu	37	20	30354424	30354424	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:30354424G>T	ENST00000300403.6	+	5	823	c.295G>T	c.(295-297)Gct>Tct	p.A99S	TPX2_ENST00000340513.4_Missense_Mutation_p.A99S	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	99					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCCGTCAAATGCTTGTTCTTC	0.428																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(295-297)Gct>Tct		TPX2, microtubule-associated							136.0	132.0	133.0					20																	30354424		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30354424G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.295G>T	20.37:g.30354424G>T	ENSP00000300403:p.Ala99Ser					TPX2_ENST00000300403.6_Missense_Mutation_p.A99S	p.A99S			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		5	823	+			99					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.295G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.534322	0.00942	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.30981	1.51	4.79	-0.78	0.10969	.	1.134480	0.06489	N	0.734275	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.28202	-1.0051	10	0.09084	T	0.74	0.3304	3.8854	0.09096	0.3582:0.0:0.4836:0.1583	.	99;99	Q96RR5;Q9ULW0	.;TPX2_HUMAN	S	99	ENSP00000341145:A99S	ENSP00000300403:A99S	A	+	1	0	TPX2	29818085	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.410000	0.07151	-0.168000	0.10853	-0.140000	0.14226	GCT		0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			41	112	1	0	1.47197e-15	1	1.57711e-15	41	112				
ALCAM	214	broad.mit.edu	37	3	105260603	105260603	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:105260603G>T	ENST00000306107.5	+	8	1485	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.V329F|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.V278F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	329					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTATCACAGTTCACTGTAA	0.393																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(985-987)Gtt>Ttt		activated leukocyte cell adhesion molecule							135.0	113.0	120.0					3																	105260603		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260603G>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.985G>T	3.37:g.105260603G>T	ENSP00000305988:p.Val329Phe					ALCAM_ENST00000486979.2_Missense_Mutation_p.V278F|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.V329F	p.V329F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1485	+			329					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.985G>T	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249447	0.80024	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.35789	1.29;1.29;1.29	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.88640	2.97	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.65874	0.939;0.939	T	0.69694	-0.5076	10	0.72032	D	0.01	-17.6733	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	329;329	B4DTU0;Q13740	.;CD166_HUMAN	F	329;329;278	ENSP00000305988:V329F;ENSP00000419236:V329F;ENSP00000418213:V278F	ENSP00000305988:V329F	V	+	1	0	ALCAM	106743293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.995000	0.57001	2.941000	0.99782	0.655000	0.94253	GTT		0.393	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		31	17	1	0	8.16721e-17	1	9.1424e-17	31	17				
SNHG14	104472715	broad.mit.edu	37	15	25332840	25332840	+	RNA	SNP	T	T	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:25332840T>A	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TATACATTCCTTGGAAAGCTG	0.443																																						ENST00000546682.1																			0																				261.0	230.0	239.0					15																	25332840		876	1991	2867			0							g.chr15:25332840T>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332840T>A						SNHG14_ENST00000553108.1_RNA|SNORD116-21_ENST00000384529.1_lincRNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	586	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.443	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			11	110	0	0	0	1	0	11	110				
RLTPR	146206	broad.mit.edu	37	16	67680200	67680200	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr16:67680200C>T	ENST00000334583.6	+	5	689	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	RLTPR_ENST00000545661.1_Missense_Mutation_p.R121C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	121					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGTCTTCCCTCGCTCGACCCT	0.637																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(361-363)Cgc>Tgc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							46.0	52.0	50.0					16																	67680200		2071	4212	6283	SO:0001583	missense	146206							g.chr16:67680200C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.361C>T	16.37:g.67680200C>T	ENSP00000334958:p.Arg121Cys					RLTPR_ENST00000545661.1_Missense_Mutation_p.R121C	p.R121C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	5	689	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	121					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.361C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021681	0.19433	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13778	2.56;2.56	4.87	0.43	0.16515	.	0.471745	0.22416	N	0.060357	T	0.05686	0.0149	N	0.08118	0	0.09310	N	0.999994	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.29518	-1.0009	10	0.52906	T	0.07	-20.0258	5.0204	0.14358	0.0:0.5062:0.208:0.2859	.	121;121	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	C	121	ENSP00000334958:R121C;ENSP00000441481:R121C	ENSP00000334958:R121C	R	+	1	0	RLTPR	66237701	0.763000	0.28462	0.790000	0.31976	0.424000	0.31475	0.858000	0.27845	0.270000	0.21984	-0.254000	0.11334	CGC		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		14	27	0	0	0	1	0	14	27				
ZDBF2	57683	broad.mit.edu	37	2	207175965	207175965	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:207175965A>T	ENST00000374423.3	+	5	7099	c.6713A>T	c.(6712-6714)tAt>tTt	p.Y2238F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2238							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGTCATAGATATCAGTCCAGG	0.373																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6712-6714)tAt>tTt		zinc finger, DBF-type containing 2							36.0	37.0	36.0					2																	207175965		1818	4076	5894	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175965A>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6713A>T	2.37:g.207175965A>T	ENSP00000363545:p.Tyr2238Phe						p.Y2238F	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	7099	+			2238					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6713A>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.681997	0.29872	.	.	ENSG00000204186	ENST00000374423	T	0.51071	0.72	5.46	3.02	0.34903	.	.	.	.	.	T	0.33000	0.0848	L	0.36672	1.1	0.09310	N	1	B	0.28055	0.199	B	0.25405	0.06	T	0.19679	-1.0298	9	0.29301	T	0.29	.	5.3533	0.16047	0.7264:0.0:0.1439:0.1297	.	2238	Q9HCK1	ZDBF2_HUMAN	F	2238	ENSP00000363545:Y2238F	ENSP00000363545:Y2238F	Y	+	2	0	ZDBF2	206884210	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.143000	0.16115	0.417000	0.25871	-0.274000	0.10170	TAT		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	17	0	0	0	1	0	12	17				
COLEC12	81035	broad.mit.edu	37	18	321700	321700	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:321700T>C	ENST00000400256.3	-	9	2378	c.2171A>G	c.(2170-2172)gAc>gGc	p.D724G	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	724	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTTATTGACGTCTTCACATTG	0.502																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(2170-2172)gAc>gGc		collectin sub-family member 12							293.0	290.0	291.0					18																	321700		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:321700T>C	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.2171A>G	18.37:g.321700T>C	ENSP00000383115:p.Asp724Gly						p.D724G	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			9	2378	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	724			C-type lectin.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.2171A>G	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518104	0.85495	.	.	ENSG00000158270	ENST00000400256	T	0.19394	2.15	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.105878	0.64402	D	0.000007	T	0.30135	0.0755	L	0.46741	1.465	0.58432	D	0.999999	P	0.38250	0.624	P	0.45660	0.489	T	0.03008	-1.1083	10	0.72032	D	0.01	-13.8595	15.9259	0.79615	0.0:0.0:0.0:1.0	.	724	Q5KU26	COL12_HUMAN	G	724	ENSP00000383115:D724G	ENSP00000383115:D724G	D	-	2	0	COLEC12	311700	1.000000	0.71417	0.961000	0.40146	0.892000	0.51952	7.443000	0.80521	2.161000	0.67846	0.460000	0.39030	GAC		0.502	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			6	295	0	0	0	1	0	6	295				
TDRD10	126668	broad.mit.edu	37	1	154493952	154493952	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:154493952G>A	ENST00000368480.3	+	6	451	c.366G>A	c.(364-366)ccG>ccA	p.P122P	TDRD10_ENST00000368482.4_Silent_p.P122P|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	122							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCGGGCCCCGCTGGTATGTC	0.527																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(364-366)ccG>ccA		tudor domain containing 10							119.0	129.0	125.0					1																	154493952		2203	4300	6503	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154493952G>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.366G>A	1.37:g.154493952G>A						TDRD10_ENST00000368480.3_Silent_p.P122P|TDRD10_ENST00000479937.1_3'UTR	p.P122P	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1204	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		122					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.366G>A	CCDS41406.1																																																																																				0.527	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		91	103	0	0	0	1	0	91	103				
FZD2	2535	broad.mit.edu	37	17	42636256	42636256	+	Silent	SNP	C	C	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:42636256C>G	ENST00000315323.3	+	1	1332	c.1200C>G	c.(1198-1200)ggC>ggG	p.G400G		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	400					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|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)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGAGCGGCGTGTGCTTCG	0.662																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1198-1200)ggC>ggG		frizzled family receptor 2							70.0	70.0	70.0					17																	42636256		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636256C>G	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1200C>G	17.37:g.42636256C>G							p.G400G	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1332	+		Prostate(33;0.0181)	400					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1200C>G	CCDS11484.1																																																																																				0.662	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		84	8	0	0	0	1	0	84	8				
FBXW7	55294	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		18	Substitution - Missense(17)|Unknown(1)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)	large_intestine(11)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(2065-2067)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							172.0	167.0	168.0					4																	153244092		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244092G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2065C>T	4.37:g.153244092G>A	ENSP00000281708:p.Arg689Trp					FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W	p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3294	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	689					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2065C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475565	0.26511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.53892	-0.8374	10	0.87932	D	0	-15.04	14.5904	0.68359	0.0:0.0:0.854:0.146	.	513;689;571;609	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	689;571;609;513	ENSP00000281708:R689W;ENSP00000296555:R571W;ENSP00000263981:R609W;ENSP00000377528:R513W	ENSP00000263981:R609W	R	-	1	2	FBXW7	153463542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.681000	0.91329	0.655000	0.94253	CGG		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			60	69	0	0	0	1	0	60	69				
ARR3	407	broad.mit.edu	37	X	69489951	69489951	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chrX:69489951C>T	ENST00000307959.8	+	5	153	c.102C>T	c.(100-102)gaC>gaT	p.D34D	ARR3_ENST00000374495.3_Splice_Site_p.D34D	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	34					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCTCCACAGACGGTGTTGTCC	0.433																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.e5-1		arrestin 3, retinal (X-arrestin)							204.0	159.0	175.0					X																	69489951		2203	4300	6503	SO:0001630	splice_region_variant	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69489951C>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.101-1C>T	X.37:g.69489951C>T						ARR3_ENST00000307959.8_Splice_Site_p.D34_splice	p.D34_splice			P36575	ARRC_HUMAN			5	200	+			34					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Splice_Site	SNP	ENST00000307959.8	37	c.100_splice	CCDS14399.1																																																																																				0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	Silent	24	4	0	0	0	1	0	24	4				
ZCCHC6	79670	broad.mit.edu	37	9	88938512	88938512	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:88938512C>T	ENST00000375963.3	-	13	2325	c.2153G>A	c.(2152-2154)aGt>aAt	p.S718N	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.S7N|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S595N|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	718					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGGGTGGACACTGATGTGTTC	0.413																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(19-21)aGt>aAt		zinc finger, CCHC domain containing 6							149.0	142.0	144.0					9																	88938512		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938512C>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2153G>A	9.37:g.88938512C>T	ENSP00000365130:p.Ser718Asn					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S595N	p.S7N			Q5VYS8	TUT7_HUMAN			14	2444	-			718					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.20G>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437221	0.12104	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.55413	0.52;0.95;0.95;0.95	5.42	1.15	0.20763	.	1.081970	0.06890	N	0.804111	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B	0.24823	0.023;0.112	B;B	0.21151	0.033;0.016	T	0.27806	-1.0063	10	0.48119	T	0.1	-16.5661	6.7885	0.23687	0.1195:0.5711:0.2431:0.0663	.	595;718	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	N	7;595;718;718	ENSP00000277141:S7N;ENSP00000365127:S595N;ENSP00000365128:S718N;ENSP00000365130:S718N	ENSP00000277141:S7N	S	-	2	0	ZCCHC6	88128332	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	0.031000	0.13710	0.366000	0.24427	0.650000	0.86243	AGT		0.413	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		22	68	0	0	0	1	0	22	68				
NLRP8	126205	broad.mit.edu	37	19	56466006	56466006	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:56466006G>A	ENST00000291971.3	+	3	653	c.582G>A	c.(580-582)ctG>ctA	p.L194L	NLRP8_ENST00000590542.1_Silent_p.L194L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	194					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)		GTCTGCTTCTGCCCAAAAGAC	0.522																																						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.(580-582)ctG>ctA		NLR family, pyrin domain containing 8							96.0	87.0	90.0					19																	56466006		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466006G>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.582G>A	19.37:g.56466006G>A						NLRP8_ENST00000590542.1_Silent_p.L194L	p.L194L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	653	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	194					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.582G>A	CCDS12937.1																																																																																				0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		56	46	0	0	0	1	0	56	46				
ZNF733P	643955	broad.mit.edu	37	7	62752538	62752538	+	RNA	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:62752538G>T	ENST00000331425.6	-	0	897					NR_003952.1				zinc finger protein 733, pseudogene																		TGAGGGTTGAGGATACGCTAA	0.473																																						ENST00000331425.6																			0																																																			0							g.chr7:62752538G>T			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752538G>T								NR_003952.1						0	897	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.473	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			11	20	1	0	2.61681e-11	1	2.72585e-11	11	20				
ADAMTS16	170690	broad.mit.edu	37	5	5200325	5200325	+	Missense_Mutation	SNP	G	G	A	rs199521777		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:5200325G>A	ENST00000274181.7	+	9	1532	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R465H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	465	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTGGCAGGACGCAATGGAGTC	0.483																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1393-1395)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							88.0	92.0	91.0					5																	5200325		1972	4176	6148	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200325G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1394G>A	5.37:g.5200325G>A	ENSP00000274181:p.Arg465His					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R465H	p.R465H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			9	1532	+			465			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1394G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953792	0.34471	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.03772	3.81;3.81	4.76	3.62	0.41486	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.064020	0.64402	D	0.000012	T	0.01387	0.0045	N	0.01209	-0.955	0.39383	D	0.966283	B;B;B	0.14438	0.01;0.006;0.007	B;B;B	0.13407	0.005;0.005;0.009	T	0.48779	-0.9005	10	0.10111	T	0.7	.	4.1754	0.10349	0.3298:0.0:0.6702:0.0	.	465;465;465	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	H	465	ENSP00000274181:R465H;ENSP00000421631:R465H	ENSP00000274181:R465H	R	+	2	0	ADAMTS16	5253325	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.056000	0.57448	2.347000	0.79759	0.655000	0.94253	CGC		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		31	17	0	0	0	1	0	31	17				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			4	62	0	0	0	1	0	4	62				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			38	38	0	0	0	1	0	38	38				
MYF5	4617	broad.mit.edu	37	12	81111292	81111292	+	Silent	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:81111292A>T	ENST00000228644.3	+	1	602	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	150					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCCTGCCGGGACAGAGCTGCT	0.557																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(448-450)ggA>ggT		myogenic factor 5							122.0	131.0	128.0					12																	81111292		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111292A>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.450A>T	12.37:g.81111292A>T							p.G150G	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	602	+			150					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.450A>T	CCDS9020.1																																																																																				0.557	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		93	137	0	0	0	1	0	93	137				
KEL	3792	broad.mit.edu	37	7	142641781	142641781	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:142641781G>A	ENST00000355265.2	-	12	1836	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	454					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGGTTTCTGAGGCGAGTGA	0.602																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1360-1362)ctC>ctT		Kell blood group, metallo-endopeptidase							79.0	69.0	72.0					7																	142641781		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142641781G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1362C>T	7.37:g.142641781G>A							p.L454L	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			12	1836	-	Melanoma(164;0.059)		454					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1362C>T	CCDS34766.1																																																																																				0.602	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		8	21	0	0	0	1	0	8	21				
RARG	5916	broad.mit.edu	37	12	53606944	53606944	+	Missense_Mutation	SNP	G	G	A	rs143739684		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:53606944G>A	ENST00000425354.2	-	9	1589	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	RARG_ENST00000394426.1_Missense_Mutation_p.R368W|RARG_ENST00000543726.1_Missense_Mutation_p.R346W|RARG_ENST00000338561.5_Missense_Mutation_p.R357W|RARG_ENST00000327550.3_Missense_Mutation_p.R296W|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	368	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|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)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTGGGCCGCCGGCGCCGGGCG	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1102-1104)Cgg>Tgg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	49.0	48.0	48.0		1102,1069	3.5	1.0	12	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RARG	NM_000966.5,NM_001042728.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	368/455,357/444	53606944	1,13005	2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53606944G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1102C>T	12.37:g.53606944G>A	ENSP00000388510:p.Arg368Trp		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000327550.3_Missense_Mutation_p.R296W|RARG_ENST00000338561.5_Missense_Mutation_p.R357W|RARG_ENST00000543726.1_Missense_Mutation_p.R346W|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.R368W	p.R368W	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			9	1589	-			368			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.1102C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378683	0.82682	0.0	1.16E-4	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	5.42	3.48	0.39840	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.998;1.0	D	0.98083	1.0405	10	0.87932	D	0	.	9.3046	0.37867	0.0776:0.0:0.7781:0.1443	.	346;368;357	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	W	368;368;296;357;346	ENSP00000388510:R368W;ENSP00000377947:R368W;ENSP00000332695:R296W;ENSP00000343698:R357W;ENSP00000444335:R346W	ENSP00000332695:R296W	R	-	1	2	RARG	51893211	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.268000	0.51585	1.439000	0.47511	-0.251000	0.11542	CGG		0.602	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		44	58	0	0	0	1	0	44	58				
CLEC17A	388512	broad.mit.edu	37	19	14707736	14707736	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:14707736G>T	ENST00000417570.1	+	9	532	c.494G>T	c.(493-495)tGc>tTc	p.C165F	CLEC17A_ENST00000397439.2_Missense_Mutation_p.C148F|CLEC17A_ENST00000547437.1_Missense_Mutation_p.C165F	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	165						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CCTGGCTGCTGCCAGAAGAGG	0.572																																						ENST00000547437.1																			0											c.(493-495)tGc>tTc		C-type lectin domain family 17, member A							79.0	87.0	84.0					19																	14707736		2116	4237	6353	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14707736G>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.494G>T	19.37:g.14707736G>T	ENSP00000393719:p.Cys165Phe					CLEC17A_ENST00000397439.2_Missense_Mutation_p.C148F|CLEC17A_ENST00000417570.1_Missense_Mutation_p.C165F	p.C165F	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			9	571	+			165					A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.494G>T	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	G	0.234	-1.018562	0.02078	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62788	0.0;0.0;0.0	3.39	-0.254	0.12992	.	0.722608	0.11449	N	0.562977	T	0.36110	0.0955	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.17268	0.021;0.002;0.003;0.009	B;B;B;B	0.11329	0.006;0.003;0.001;0.004	T	0.16928	-1.0386	10	0.12103	T	0.63	-17.6469	2.0758	0.03623	0.3733:0.0:0.3765:0.2502	.	165;165;165;165	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	F	165;148;165	ENSP00000450065:C165F;ENSP00000380581:C148F;ENSP00000393719:C165F	ENSP00000341620:C165F	C	+	2	0	CLEC17A	14568736	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.477000	0.06583	-0.107000	0.12088	0.644000	0.83932	TGC		0.572	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		7	6	1	0	0.00198382	1	0.00198382	7	6				
NDN	4692	broad.mit.edu	37	15	23931940	23931940	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23931940C>T	ENST00000331837.4	-	1	510	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	142	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R142H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGGCTGGTGCGCCGGAGGAT	0.587									Prader-Willi syndrome																													ENST00000331837.4																			1	Substitution - Missense(1)	p.R142H(1)	breast(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(424-426)cGc>cAc		necdin, melanoma antigen (MAGE) family member							51.0	51.0	51.0					15																	23931940		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931940C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.425G>A	15.37:g.23931940C>T	ENSP00000332643:p.Arg142His						p.R142H	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	510	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	142			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.425G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894953	0.72639	.	.	ENSG00000182636	ENST00000331837	T	0.06142	3.34	3.87	2.94	0.34122	.	0.061594	0.64402	D	0.000008	T	0.12689	0.0308	L	0.46741	1.465	0.40577	D	0.981358	D	0.56746	0.977	P	0.58620	0.842	T	0.01739	-1.1284	10	0.87932	D	0	.	7.934	0.29918	0.0:0.8799:0.0:0.1201	.	142	Q99608	NECD_HUMAN	H	142	ENSP00000332643:R142H	ENSP00000332643:R142H	R	-	2	0	NDN	21483033	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	3.387000	0.52501	0.926000	0.37118	0.561000	0.74099	CGC		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		21	16	0	0	0	1	0	21	16				
SH3GL3	6457	broad.mit.edu	37	15	84257518	84257518	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:84257518C>A	ENST00000427482.2	+	8	1139	c.833C>A	c.(832-834)aCg>aAg	p.T278K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T286K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T278K|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T286K	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	278					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTAGTGAAGACGACAGGTAAG	0.443																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(856-858)aCg>aAg		SH3-domain GRB2-like 3							123.0	89.0	101.0					15																	84257518		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84257518C>A	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.833C>A	15.37:g.84257518C>A	ENSP00000391372:p.Thr278Lys					SH3GL3_ENST00000535412.1_Missense_Mutation_p.T278K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T286K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T278K	p.T286K			Q99963	SH3G3_HUMAN			11	1349	+			278			SH3.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.857C>A	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	1.128	-0.653178	0.03480	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T	0.18502	2.24;2.21;2.21	4.34	3.41	0.39046	.	1.045340	0.07470	N	0.902044	T	0.15478	0.0373	L	0.44542	1.39	0.09310	N	1	B;B;B	0.23891	0.093;0.046;0.045	B;B;B	0.29942	0.033;0.051;0.109	T	0.39981	-0.9587	10	0.07175	T	0.84	-27.4946	8.7017	0.34329	0.0:0.8959:0.0:0.1041	.	278;278;286	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	K	278;278;286;286	ENSP00000391372:T278K;ENSP00000320092:T286K;ENSP00000397871:T286K	ENSP00000320092:T286K	T	+	2	0	SH3GL3	82048522	0.186000	0.23225	0.006000	0.13384	0.024000	0.10985	0.819000	0.27308	1.387000	0.46486	0.655000	0.94253	ACG		0.443	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		20	13	1	0	2.94398e-08	1	3.02464e-08	20	13				
MST1L	11223	broad.mit.edu	37	1	17084768	17084768	+	RNA	SNP	G	G	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:17084768G>C	ENST00000455405.2	-	0	248							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TAGAGACCCCGCGCAGAAATG	0.572																																						ENST00000455405.2																			0																																																			0							g.chr1:17084768G>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084768G>C														0	248	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	0.011	-1.693221	0.00731	.	.	ENSG00000186715	ENST00000389184;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.12050	0.0293	.	.	.	.	.	.	B	0.06786	0.001	B	0.08055	0.003	T	0.38308	-0.9667	5	0.02654	T	1	.	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	rs2092129;rs3982161	512	Q2TV78	MSTP9_HUMAN	G	481;512	.	ENSP00000445850:A481G	A	-	2	0	MST1P9	16957355	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.026000	0.49689	-0.000000	0.14550	0.000000	0.15137	GCG		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	37	0	0	0	1	0	3	37				
PCDHA6	56142	broad.mit.edu	37	5	140209120	140209120	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140209120G>A	ENST00000529310.1	+	1	1558	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A482T|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1444-1446)Gcg>Acg									48.0	55.0	52.0					5																	140209120		2202	4297	6499	SO:0001583	missense	0							g.chr5:140209120G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1444G>A	5.37:g.140209120G>A	ENSP00000433378:p.Ala482Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A482T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A482T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1558	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1444G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019741	0.08006	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01787	4.64;4.64	3.72	1.73	0.24493	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.03608	0.0103	M	0.75085	2.285	0.09310	N	1	B;B;B	0.31611	0.155;0.331;0.32	B;B;B	0.36885	0.148;0.235;0.117	T	0.18967	-1.0320	10	0.66056	D	0.02	.	8.9766	0.35939	0.0:0.1376:0.5817:0.2807	.	482;482;482	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	482	ENSP00000433378:A482T;ENSP00000434113:A482T	ENSP00000434113:A482T	A	+	1	0	PCDHA6	140189304	0.000000	0.05858	1.000000	0.80357	0.027000	0.11550	-0.387000	0.07361	0.903000	0.36546	-0.652000	0.03908	GCG		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		67	88	0	0	0	1	0	67	88				
LAMA1	284217	broad.mit.edu	37	18	6965302	6965302	+	Nonsense_Mutation	SNP	G	G	A	rs542213899		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:6965302G>A	ENST00000389658.3	-	50	7273	c.7180C>T	c.(7180-7182)Cga>Tga	p.R2394*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2394	Laminin G-like 2. {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)				TTCCGGTTTCGCTGGAAGGCA	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18945	0.0		0.0	False		,,,				2504	0.0					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.(7180-7182)Cga>Tga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	124.0	127.0					18																	6965302		2203	4300	6503	SO:0001587	stop_gained	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.chr18:6965302G>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.7180C>T	18.37:g.6965302G>A	ENSP00000374309:p.Arg2394*						p.R2394*	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			50	7273	-		Colorectal(10;0.172)	2394			Laminin G-like 2.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.7180C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	49	15.016997	0.99819	.	.	ENSG00000101680	ENST00000389658	.	.	.	6.17	-3.6	0.04570	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.0564	0.99945	0.0:0.0:0.2505:0.7495	.	.	.	.	X	2394	.	ENSP00000374309:R2394X	R	-	1	2	LAMA1	6955302	0.999000	0.42202	0.892000	0.35008	0.952000	0.60782	0.487000	0.22356	-1.158000	0.02811	0.655000	0.94253	CGA		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		50	42	0	0	0	1	0	50	42				
GJA8	2703	broad.mit.edu	37	1	147380635	147380635	+	Missense_Mutation	SNP	C	C	T	rs201445539		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:147380635C>T	ENST00000369235.1	+	1	553	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	GJA8_ENST00000240986.4_Missense_Mutation_p.R185W			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	185					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCTGCAGCCGGTGGCCCTG	0.567																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(553-555)Cgg>Tgg		gap junction protein, alpha 8, 50kDa							103.0	94.0	97.0					1																	147380635		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380635C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.553C>T	1.37:g.147380635C>T	ENSP00000358238:p.Arg185Trp					GJA8_ENST00000369235.1_Missense_Mutation_p.R185W	p.R185W	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	606	+	all_hematologic(923;0.0276)		185					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.553C>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.076020	0.55646	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.95980	-3.87;-3.87	4.89	2.97	0.34412	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	H	0.94886	3.595	0.51482	D	0.999922	D	0.89917	1.0	D	0.87578	0.998	D	0.98329	1.0532	10	0.87932	D	0	.	13.3305	0.60483	0.5685:0.4315:0.0:0.0	.	185	P48165	CXA8_HUMAN	W	185	ENSP00000240986:R185W;ENSP00000358238:R185W	ENSP00000240986:R185W	R	+	1	2	GJA8	145847259	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	1.462000	0.35266	0.421000	0.25980	0.313000	0.20887	CGG		0.567	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		6	140	0	0	0	1	0	6	140				
HERC1	8925	broad.mit.edu	37	15	64021494	64021494	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:64021494C>T	ENST00000443617.2	-	16	3182	c.3095G>A	c.(3094-3096)cGt>cAt	p.R1032H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1032					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATTTGCAGAACGTGAATAAAT	0.343																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(3094-3096)cGt>cAt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							42.0	39.0	40.0					15																	64021494		1842	4099	5941	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64021494C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3095G>A	15.37:g.64021494C>T	ENSP00000390158:p.Arg1032His						p.R1032H	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			16	3182	-			1032					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3095G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260767	0.95368	.	.	ENSG00000103657	ENST00000443617	T	0.68765	-0.35	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	T	0.73908	0.3647	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.70081	-0.4970	10	0.28530	T	0.3	.	19.6131	0.95618	0.0:1.0:0.0:0.0	.	1032	Q15751	HERC1_HUMAN	H	1032	ENSP00000390158:R1032H	ENSP00000390158:R1032H	R	-	2	0	HERC1	61808547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.652000	0.90054	0.561000	0.74099	CGT		0.343	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	19	0	0	0	1	0	5	19				
CAMK2G	818	broad.mit.edu	37	10	75597241	75597241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:75597241C>T	ENST00000444854.2	-	6	496	c.376G>A	c.(376-378)Gga>Aga	p.G126R	CAMK2G_ENST00000322635.3_Silent_p.S346S|CAMK2G_ENST00000305762.7_Silent_p.S325S|CAMK2G_ENST00000351293.3_Silent_p.S325S|CAMK2G_ENST00000322680.3_Silent_p.S325S|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000423381.1_Silent_p.S346S|CAMK2G_ENST00000372765.1_Silent_p.S346S|CAMK2G_ENST00000394762.2_Silent_p.S325S			Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CACCGCCATCCGACTTCTTGT	0.522																																						ENST00000444854.2																			0				kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15						c.(376-378)Gga>Aga		calcium/calmodulin-dependent protein kinase II gamma							229.0	218.0	222.0					10																	75597241		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75597241C>T	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000444854.2:c.376G>A	10.37:g.75597241C>T	ENSP00000399680:p.Gly126Arg					CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.S325S|CAMK2G_ENST00000423381.1_Silent_p.S346S|CAMK2G_ENST00000394762.2_Silent_p.S325S|CAMK2G_ENST00000372765.1_Silent_p.S346S|CAMK2G_ENST00000351293.3_Silent_p.S325S|CAMK2G_ENST00000322635.3_Silent_p.S346S|CAMK2G_ENST00000305762.7_Silent_p.S325S	p.G126R			Q13555	KCC2G_HUMAN			6	496	-	Prostate(51;0.0112)		0			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000444854.2	37	c.376G>A		.	.	.	.	.	.	.	.	.	.	C	10.14	1.267172	0.23136	.	.	ENSG00000148660	ENST00000441192;ENST00000444854	T	0.72282	-0.64	5.99	-10.9	0.00192	.	.	.	.	.	T	0.45034	0.1322	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	T	0.23762	-1.0179	5	.	.	.	.	3.5582	0.07871	0.1623:0.3836:0.0819:0.3723	.	.	.	.	R	104;126	ENSP00000399680:G126R	.	G	-	1	0	CAMK2G	75267247	0.000000	0.05858	0.734000	0.30879	0.884000	0.51177	-3.471000	0.00460	-1.703000	0.01409	-0.982000	0.02568	GGA		0.522	CAMK2G-204	KNOWN	basic	protein_coding	protein_coding		NM_172169		134	102	0	0	0	1	0	134	102				
LINC01317	104355287	broad.mit.edu	37	2	33952656	33952656	+	lincRNA	SNP	C	C	T	rs574694619		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:33952656C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							AAGACGATGGCGGCGATGGCG	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18633	0.0		0.0	False		,,,				2504	0.0					ENST00000366209.2																			0																																																			0							g.chr2:33952656C>T																													2.37:g.33952656C>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.647	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			32	27	0	0	0	1	0	32	27				
AGAP4	119016	broad.mit.edu	37	10	46322004	46322004	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:46322004G>A	ENST00000448048.2	-	7	1476	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	451	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						GCGTTCCCACGCATGTTTTGG	0.557																																						ENST00000448048.2																			0				central_nervous_system(1)|lung(1)|ovary(1)	3						c.(1351-1353)Cgt>Tgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							15.0	15.0	15.0					10																	46322004		1934	3719	5653	SO:0001583	missense	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322004G>A	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1351C>T	10.37:g.46322004G>A	ENSP00000392513:p.Arg451Cys						p.R451C	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			7	1476	-			451			Arf-GAP.			Missense_Mutation	SNP	ENST00000448048.2	37	c.1351C>T	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.247951	0.22880	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.43688	0.94	.	.	.	.	0.159903	0.39210	N	0.001428	T	0.51092	0.1654	M	0.69358	2.11	0.39653	D	0.970497	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.98;0.964;0.99	T	0.51601	-0.8685	9	0.66056	D	0.02	.	4.5974	0.12336	0.3343:0.0:0.6657:0.0	.	474;519;451	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	C	451;227	ENSP00000392513:R451C	ENSP00000343438:R227C	R	-	1	0	AGAP4	45642010	0.000000	0.05858	0.032000	0.17829	0.033000	0.12548	0.097000	0.15168	-1.657000	0.01492	-1.643000	0.00768	CGT		0.557	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		26	149	0	0	0	1	0	26	149				
CATSPER1	117144	broad.mit.edu	37	11	65792758	65792758	+	Missense_Mutation	SNP	G	G	A	rs200189507	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:65792758G>A	ENST00000312106.5	-	1	1230	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	365					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGGAGGACCGAGTCATGCTG	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19342	0.0		0.0	False		,,,				2504	0.0					ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1093-1095)Cgg>Tgg		cation channel, sperm associated 1							131.0	107.0	115.0					11																	65792758		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792758G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1093C>T	11.37:g.65792758G>A	ENSP00000309052:p.Arg365Trp						p.R365W	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	1230	-			365					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1093C>T	CCDS8127.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.49	2.550826	0.45383	.	.	ENSG00000175294	ENST00000312106	D	0.97575	-4.44	2.63	2.63	0.31362	.	.	.	.	.	D	0.96358	0.8812	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	P	0.53490	0.727	D	0.90815	0.4704	9	0.62326	D	0.03	-0.9363	8.9264	0.35643	0.0:0.0:1.0:0.0	.	365	Q8NEC5	CTSR1_HUMAN	W	365	ENSP00000309052:R365W	ENSP00000309052:R365W	R	-	1	2	CATSPER1	65549334	0.002000	0.14202	0.002000	0.10522	0.008000	0.06430	0.788000	0.26872	1.799000	0.52666	0.460000	0.39030	CGG		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		34	40	0	0	0	1	0	34	40				
MT-ND1	4535	broad.mit.edu	37	M	4172	4172	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chrM:4172T>C	ENST00000361390.2	+	1	866	c.866T>C	c.(865-867)cTa>cCa	p.L289P	MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TI_ENST00000387365.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	289					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATACACCTCCTATGAAAAAA	0.423																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(865-867)cTa>cCa		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:4172T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.866T>C	M.37:g.4172T>C	ENSP00000354687:p.Leu289Pro						p.289_289insP							1	866	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.866T>C																																																																																					0.423	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		42	1	0	0	0	1	0	42	1				
MYH7	4625	broad.mit.edu	37	14	23885021	23885021	+	Silent	SNP	G	G	A	rs374289523		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:23885021G>A	ENST00000355349.3	-	35	5136	c.4974C>T	c.(4972-4974)gaC>gaT	p.D1658D	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1658					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGACTGCATCGTCCAGCTGAA	0.612																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4972-4974)gaC>gaT		myosin, heavy chain 7, cardiac muscle, beta		G		0,4406		0,0,2203	71.0	57.0	62.0		4974	-6.3	0.8	14		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH7	NM_000257.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1658/1936	23885021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885021G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4974C>T	14.37:g.23885021G>A							p.D1658D	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	35	5136	-	all_cancers(95;2.54e-05)		1658					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4974C>T	CCDS9601.1																																																																																				0.612	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		28	32	0	0	0	1	0	28	32				
DEPDC7	91614	broad.mit.edu	37	11	33047304	33047304	+	Missense_Mutation	SNP	G	G	A	rs552446140		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:33047304G>A	ENST00000241051.3	+	2	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H	DEPDC7_ENST00000311388.3_Missense_Mutation_p.R49H	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	58	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CGAAGGCACCGTTTAAAACGA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21326	0.0		0.0	False		,,,				2504	0.0					ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(145-147)cGt>cAt		DEP domain containing 7							179.0	169.0	172.0					11																	33047304		1909	4129	6038	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33047304G>A		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.173G>A	11.37:g.33047304G>A	ENSP00000241051:p.Arg58His					DEPDC7_ENST00000241051.3_Missense_Mutation_p.R58H	p.R49H	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			2	522	+			58			DEP.		G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.146G>A	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	5.727	0.318651	0.10845	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.11604	2.76;2.76	6.04	2.32	0.28847	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.188665	0.56097	N	0.000030	T	0.02533	0.0077	N	0.00746	-1.225	0.26132	N	0.980408	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.46498	-0.9187	10	0.02654	T	1	-5.4554	9.5903	0.39541	0.8025:0.0:0.1975:0.0	.	58;58;49;58	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	H	58;49	ENSP00000241051:R58H;ENSP00000308971:R49H	ENSP00000241051:R58H	R	+	2	0	DEPDC7	33003880	1.000000	0.71417	0.704000	0.30370	0.976000	0.68499	5.045000	0.64220	0.182000	0.20032	-0.459000	0.05422	CGT		0.393	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		57	42	0	0	0	1	0	57	42				
SEC22B	9554	broad.mit.edu	37	1	145109284	145109292	+	RNA	DEL	AAAAAAAAA	AAAAAAAAA	-	rs373765269		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:145109284_145109292delAAAAAAAAA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											actccgtctcaaaaaaaaagaaaaaaaaa	0.435																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109284_145109292delAAAAAAAAA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109284_145109292delAAAAAAAAA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.435	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	4						3	4	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145112049	145112050	+	RNA	INS	-	-	GTG	rs147351886|rs367602437		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:145112049_145112050insGTG	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											caggctaaagtgtggtggtgtg	0.48																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145112049_145112050insGTG	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112056_145112058dupGTG										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.480	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
LOC101928979	101928979	broad.mit.edu	37	1	145381924	145381925	+	lincRNA	INS	-	-	A	rs368673074|rs562734630|rs71582796		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:145381924_145381925insA	ENST00000433081.2	-	0	342				RNVU1-6_ENST00000364688.1_RNA																							gactccgtctcaaaaaaaaaaa	0.49																																						ENST00000419817.1																			0																																																			0							g.chr1:145381924_145381925insA																													1.37:g.145381935_145381935dupA														0	307	-									RNA	INS	ENST00000433081.2	37																																																																																						0.490	RP11-458D21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000100475.2			3	3						3	3	---	---	---	---
AC113610.1	0	broad.mit.edu	37	2	151095705	151095705	+	lincRNA	DEL	A	A	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:151095705delA	ENST00000429317.1	-	0	254				AC016682.1_ENST00000437118.1_lincRNA																							gctcatgtctactcctgagtg	0.463																																						ENST00000429317.1																			0																																																			0							g.chr2:151095705delA																													2.37:g.151095705delA						AC016682.1_ENST00000437118.1_lincRNA								0	254	-									RNA	DEL	ENST00000429317.1	37																																																																																						0.463	AC113610.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000332351.1			2	4						2	4	---	---	---	---
RP11-1252I4.2	0	broad.mit.edu	37	5	177406055	177406056	+	RNA	DEL	AC	AC	-	rs377160534|rs112257503|rs147354441		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:177406055_177406056delAC	ENST00000511650.1	+	0	145																											tgtgtgAAAGACAGACACAGAG	0.53																																						ENST00000511650.1																			0																																																			0							g.chr5:177406055_177406056delAC																													5.37:g.177406055_177406056delAC														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.530	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			2	4						2	4	---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44018523	44018526	+	RNA	DEL	TGAG	TGAG	-	rs58670391|rs67063746|rs373313679		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:44018523_44018526delTGAG	ENST00000427076.1	-	0	894				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		agtgtgggaatgagtgagtgagtg	0.529																																						ENST00000427076.1																			0																																																			0							g.chr7:44018523_44018526delTGAG			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44018531_44018534delTGAG								NR_003655.2						0	894	-									RNA	DEL	ENST00000427076.1	37																																																																																						0.529	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		2	4						2	4	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			4	7						4	7	---	---	---	---
LRRC4	64101	broad.mit.edu	37	7	127670673	127670674	+	Frame_Shift_Ins	INS	-	-	A	rs201810875		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:127670673_127670674insA	ENST00000249363.3	-	2	277_278	c.20_21insT	c.(19-21)gtafs	p.V7fs	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	7					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTGCACAGTTACCTGCCACAA	0.574																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(19-21)gacfs		leucine rich repeat containing 4																																				SO:0001589	frameshift_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670673_127670674insA	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.21dupT	7.37:g.127670674_127670674dupA	ENSP00000249363:p.Val7fs					SND1_ENST00000354725.3_Intron	p.D7fs	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	277_278	-			7					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Frame_Shift_Ins	INS	ENST00000249363.3	37	c.20_21insT	CCDS5799.1																																																																																				0.574	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		23	101						23	101	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	3						3	3	---	---	---	---
CASC8	727677	broad.mit.edu	37	8	128476506	128476507	+	RNA	INS	-	-	ACACAC	rs58365041|rs56156736|rs372377516|rs71566636		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr8:128476506_128476507insACACAC	ENST00000502082.1	-	0	1041				CASC8_ENST00000502056.1_RNA					cancer susceptibility candidate 8 (non-protein coding)																		CTCCTTCTCCTacacacacaca	0.5																																						ENST00000502082.1																			0																																																			0							g.chr8:128476506_128476507insACACAC			8q24.21	2014-07-18			ENSG00000246228	ENSG00000246228		"""-"""	45129	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 860"""					24594601	Standard	NR_024393		Approved	LINC00860, CARLo-1			OTTHUMG00000165066		8.37:g.128476507_128476512dupACACAC						CASC8_ENST00000502056.1_RNA								0	1041	-									RNA	INS	ENST00000502082.1	37																																																																																						0.500	CASC8-002	KNOWN	basic	antisense	antisense	OTTHUMT00000381643.1	NR_024393		2	4						2	4	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69257046	69257073	+	Frame_Shift_Del	DEL	TCACCCTTGAGGCTGCTGAGGAGCTGGT	TCACCCTTGAGGCTGCTGAGGAGCTGGT	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	ENST00000439696.2	-	2	495_522	c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	c.(193-222)aaccagctcctcagcagcctcaagggtgagfs	p.NQLLSSLKGE65fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.NQLLSSLKGE65fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	65					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGGGCTGGCTCACCCTTGAGGCTGCTGAGGAGCTGGTTCTGGTGGAA	0.689											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(193-222)agfs		ZFP36 ring finger protein-like 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	14.37:g.69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	ENSP00000388402:p.Asn65fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.NQLLSSLKGE65fs	p.NQLLSSLKGE65fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	495_522	-			65					Q13851	Frame_Shift_Del	DEL	ENST00000439696.2	37	c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	CCDS9791.1																																																																																				0.689	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			20	43						20	43	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32833097	32833097	+	lincRNA	DEL	A	A	-	rs151328922		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr16:32833097delA	ENST00000569859.1	+	0	373																											ttagaaatggaaagactaggc	0.353																																						ENST00000569859.1																			0																																																			0							g.chr16:32833097delA																													16.37:g.32833097delA														0	373	+									RNA	DEL	ENST00000569859.1	37																																																																																						0.353	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579324	7579325	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:7579324_7579325delAG	ENST00000269305.4	-	4	551_552	c.362_363delCT	c.(361-363)tctfs	p.S121fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S121fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S121fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	121	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCAAGTCACAGACTTGGCTGT	0.559		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		22	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(2)|Substitution - Missense(1)	p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(1)	upper_aerodigestive_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|breast(3)|central_nervous_system(2)|stomach(1)|urinary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(361-363)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579324_7579325delAG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.362_363delCT	17.37:g.7579324_7579325delAG	ENSP00000269305:p.Ser121fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S121fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S121fs	p.S121fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	494_495	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	121		S -> F (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.362_363delCT	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		69	9						69	9	---	---	---	---
RP11-260A9.6	0	broad.mit.edu	37	17	25318216	25318216	+	lincRNA	DEL	T	T	-	rs369254620		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:25318216delT	ENST00000580686.1	-	0	189																											TGCTGGCCTCTGGCAGGCTGG	0.612																																						ENST00000580686.1																			0																																																			0							g.chr17:25318216delT																													17.37:g.25318216delT														0	189	-									RNA	DEL	ENST00000580686.1	37																																																																																						0.612	RP11-260A9.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000445051.1			3	6						3	6	---	---	---	---
LOC100505797	100505797	broad.mit.edu	37	18	70539941	70539941	+	lincRNA	DEL	T	T	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:70539941delT	ENST00000578967.1	+	0	101																											AAAATGTTACTTCAGTGTGCT	0.368																																						ENST00000578967.1																			0																																																			0							g.chr18:70539941delT																													18.37:g.70539941delT														0	101	+									RNA	DEL	ENST00000578967.1	37																																																																																						0.368	RP11-676J15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444211.1			2	4						2	4	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47423882	47423882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:47423882delT	ENST00000404338.3	+	1	1950	c.1950delT	c.(1948-1950)tctfs	p.S650fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	650					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)										CTGTGAACTCTTTCCAGACGC	0.438																																						ENST00000404338.3																			0											c.(1948-1950)tcfs		Rho GTPase activating protein 35							70.0	71.0	70.0					19																	47423882		1889	4127	6016	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.chr19:47423882delT	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.1950delT	19.37:g.47423882delT	ENSP00000385720:p.Ser650fs						p.S650fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	1950	+			650					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.1950delT	CCDS46127.1																																																																																				0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		49	59						49	59	---	---	---	---
KDELR1	10945	broad.mit.edu	37	19	48894581	48894582	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:48894581_48894582insG	ENST00000330720.2	-	1	228_229	c.34_35insC	c.(34-36)cacfs	p.H12fs	KDELR1_ENST00000597017.1_5'Flank	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	12					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GGCGAGGAGGTGGGAGAGGTCT	0.663											OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330720.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(34-36)cctfs		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1																																				SO:0001589	frameshift_variant	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48894581_48894582insG	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.35dupC	19.37:g.48894584_48894584dupG	ENSP00000329471:p.His12fs		OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	958		p.P12fs	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	1	228_229	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	12					B2R6N4|Q54A39|Q8NBW7	Frame_Shift_Ins	INS	ENST00000330720.2	37	c.34_35insC	CCDS12718.1																																																																																				0.663	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			5	3						5	3	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769139	57769140	+	Frame_Shift_Ins	INS	-	-	G	rs55786258	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:57769139_57769140insG	ENST00000371030.2	+	1	3065_3066	c.3065_3066insG	c.(3064-3069)ttggggfs	p.LG1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCACAGTTGGGGGGGGACA	0.678																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.D1025fs*9(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3064-3066)tggfs		zinc finger protein 831																																				SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769139_57769140insG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3073dupG	20.37:g.57769147_57769147dupG	ENSP00000360069:p.Leu1022fs						p.W1022fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3065_3066	+	all_lung(29;0.0085)		1022					Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	ENST00000371030.2	37	c.3065_3066insG	CCDS42894.1																																																																																				0.678	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	25						11	25	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11056763	11056763	+	RNA	DEL	T	T	-	rs2838178|rs111350938	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr21:11056763delT	ENST00000470054.1	-	0	487							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)		CATTGAGTAATAAAATGTTCC	0.299																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11056763delT	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.11056763delT												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	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.299	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11057307	11057308	+	RNA	INS	-	-	A	rs397805260|rs79091593|rs60256560|rs76234576		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr21:11057307_11057308insA	ENST00000470054.1	-	0	487							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)		GAGAAGATAGGAAAAAAAGCTT	0.342																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11057307_11057308insA	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.11057314_11057314dupA												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	487	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.342	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11087765	11087765	+	RNA	DEL	A	A	-	rs550382545|rs56721211	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr21:11087765delA	ENST00000470054.1	-	0	324							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)		GTAAGACTGTATTTTTTATGG	0.373																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11087765delA	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.11087765delA												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	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.373	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21398410	21398410	+	5'Flank	DEL	C	C	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr22:21398410delC	ENST00000342608.4	+	0	0				AC002472.13_ENST00000543388.1_5'Flank|P2RX6P_ENST00000439119.1_RNA|AC002472.11_ENST00000450652.1_RNA																lung(2)	2						AGGACTTGCGCCCCCGTCAGC	0.592																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:21398410delC																													22.37:g.21398410delC	Exception_encountered							NR_002829.1						0	202	-									RNA	DEL	ENST00000342608.4	37																																																																																						0.592	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
